A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604598



Internal ID6644848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32085183..32085687hg38UCSC Ensembl
Innerchr5:32085184..32085687hg38UCSC Ensembl
Outerchr5:32085183..32085688hg38UCSC Ensembl
chr5:32085289..32085793hg19UCSC Ensembl
Innerchr5:32085290..32085793hg19UCSC Ensembl
Outerchr5:32085289..32085794hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38505
hg19505
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11855018, essv11855133, essv11855103, essv11855039, essv11855040, essv11855070, essv11854996, essv11855058, essv11855083, essv11854991, essv11855043, essv11855108, essv11855116, essv11855026, essv11855016, essv11855042, essv11855053, essv11855118, essv11855069, essv11855130, essv11855131, essv11855005, essv11854989, essv11855004, essv11854999, essv11855135, essv11855120, essv11855132, essv11855111, essv11855030, essv11855054, essv11855134, essv11855008, essv11855019, essv11855038, essv11855094, essv11855142, essv11855006, essv11855138, essv11855048, essv11855028, essv11855136, essv11855021, essv11855074, essv11855114, essv11855078, essv11855090, essv11855098, essv11854984, essv11855034, essv11855035, essv11855007, essv11855056, essv11855076, essv11854982, essv11855113, essv11854986, essv11855067, essv11855064, essv11855052, essv11855080, essv11855055, essv11855059, essv11855041, essv11854995, essv11855093, essv11854977, essv11855024, essv11854974, essv11855092, essv11855107, essv11855029, essv11855095, essv11855121, essv11855010, essv11855086, essv11854983, essv11855084, essv11855014, essv11855061, essv11854993, essv11855050, essv11855085, essv11855081, essv11855051, essv11855037, essv11855140, essv11854998, essv11855020, essv11855097, essv11855139, essv11855137, essv11854990, essv11855128, essv11855110, essv11855099, essv11855089, essv11855104, essv11855122, essv11855046, essv11855036, essv11855109, essv11854978, essv11855025, essv11854997, essv11855023, essv11855032, essv11855031, essv11855143, essv11855100, essv11855096, essv11854994, essv11854981, essv11855106, essv11855071, essv11855009, essv11854973, essv11854979, essv11855000, essv11855066, essv11855105, essv11855125, essv11855126, essv11855079, essv11855123, essv11855124, essv11855045, essv11855065, essv11855112, essv11855073, essv11855102, essv11855022, essv11855144, essv11855060, essv11855077, essv11854988, essv11854985, essv11855003, essv11855001, essv11855082, essv11855119, essv11855047, essv11855068, essv11855127, essv11855062, essv11855091, essv11855044, essv11855017, essv11855015, essv11855033, essv11854987, essv11855002, essv11855072, essv11855087, essv11854975, essv11854980, essv11855057, essv11854976, essv11855013, essv11855011, essv11854992, essv11855115, essv11855075, essv11855117, essv11855012, essv11855049, essv11855129, essv11855141, essv11855063, essv11855088, essv11855027, essv11855101
SamplesHG02580, HG02666, NA20281, HG02107, HG03121, NA19625, NA12249, HG03354, HG02108, NA19031, NA19214, NA19712, HG01241, HG02675, HG02970, HG03280, HG03112, HG02799, HG03410, NA19093, HG03066, HG03304, HG02896, NA19149, NA19435, HG02974, NA19923, HG02014, HG02952, NA19331, HG03265, HG03212, HG02885, HG03571, HG02887, HG03124, HG01883, HG03048, NA18489, NA19210, HG02471, HG02497, NA19834, NA19017, HG03401, NA19108, HG01990, NA19701, HG02323, NA19355, HG03199, HG03378, NA19472, NA18873, NA19143, HG03376, HG01107, HG02455, HG03088, HG03461, NA19383, NA19982, NA19239, NA20356, HG02462, HG03484, HG02646, HG02009, HG02568, HG02577, HG02968, HG02772, HG03442, HG02667, NA19429, NA19908, HG03052, HG03520, HG02851, HG01879, NA19835, NA20282, HG03027, HG02595, NA19700, HG01986, HG02756, HG02757, HG03063, HG01242, HG03085, NA19172, NA20291, HG02768, HG03040, HG03391, NA19703, NA19393, NA19206, NA18498, HG03511, HG03547, HG02337, NA19119, HG02623, HG02807, NA19098, HG02429, HG02611, HG02971, HG01889, HG02771, HG03072, HG02852, NA19707, HG02307, HG02571, NA19131, HG02479, HG02536, HG02586, HG03118, NA19462, HG03115, HG02624, HG03132, HG03385, HG03108, HG02947, HG03224, HG03363, HG02281, NA18909, HG03499, NA19201, HG02645, NA18915, NA19403, HG03045, HG03556, HG03172, NA20274, NA20289, NA20298, HG03078, NA18879, HG01485, HG02702, HG03074, HG02256, HG03369, HG02476, HG03077, HG02721, HG02445, HG03557, HG03372, HG03117, NA19113, HG02555, HG02620, HG02813, HG03515, NA19185, HG02505, HG01890, NA18881, HG02855, HG03460, NA19121, HG03095, HG02610
Known GenesPDZD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604598
Frequency
Sample Size2504
Observed Gain0
Observed Loss172
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer