A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590077



Internal ID6630364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24829500..24830118hg38UCSC Ensembl
Innerchr2:24829554..24830064hg38UCSC Ensembl
Outerchr2:24829446..24830172hg38UCSC Ensembl
chr2:25052369..25052987hg19UCSC Ensembl
Innerchr2:25052423..25052933hg19UCSC Ensembl
Outerchr2:25052315..25053041hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38619
hg19619
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10433002, essv10433026, essv10432983, essv10432969, essv10432998, essv10432974, essv10432986, essv10433005, essv10433009, essv10432957, essv10433034, essv10432947, essv10432950, essv10432953, essv10432930, essv10432935, essv10432949, essv10433003, essv10432980, essv10433031, essv10433021, essv10432978, essv10433035, essv10433000, essv10432961, essv10433007, essv10432990, essv10432952, essv10433012, essv10433028, essv10432922, essv10432920, essv10432988, essv10433014, essv10432991, essv10433019, essv10432927, essv10433016, essv10433011, essv10433013, essv10432979, essv10433029, essv10432939, essv10433023, essv10433001, essv10432948, essv10432933, essv10432962, essv10432982, essv10432994, essv10432960, essv10432995, essv10432955, essv10433010, essv10432972, essv10432973, essv10432996, essv10433032, essv10433033, essv10433018, essv10433022, essv10433020, essv10432999, essv10432992, essv10432993, essv10433008, essv10432976, essv10432975, essv10432968, essv10432928, essv10433006, essv10432954, essv10432964, essv10432931, essv10432967, essv10432987, essv10432943, essv10432942, essv10432958, essv10432929, essv10432981, essv10432956, essv10432965, essv10432940, essv10432966, essv10433027, essv10432946, essv10432989, essv10432959, essv10432963, essv10432984, essv10432985, essv10432934, essv10433015, essv10432923, essv10432971, essv10432919, essv10432936, essv10433017, essv10432945, essv10432921, essv10432941, essv10432977, essv10433030, essv10433024, essv10432924, essv10432926, essv10432944, essv10432925, essv10433025, essv10432997, essv10433004, essv10432938, essv10432932, essv10432951, essv10432970, essv10432937
SamplesHG02879, HG01761, NA19030, HG01675, NA19026, HG01075, NA19404, HG03084, HG04159, HG01173, HG03437, HG02792, NA19023, HG03295, NA12815, NA20294, NA20759, HG03452, HG01488, NA19449, NA20894, NA19461, HG02314, HG02694, HG00106, HG02322, NA19648, NA19701, HG00113, HG03268, HG03488, HG03808, NA18873, NA19037, HG03159, HG02973, NA19143, NA19117, NA21106, HG01917, HG02585, HG02588, NA19428, HG02775, NA12763, HG01140, HG01392, HG00349, NA19020, HG02577, HG03867, HG01495, HG02667, NA12761, NA19351, HG00149, HG00338, NA19835, NA19036, HG04227, NA19700, HG00343, HG01362, HG03063, NA12006, HG02283, HG02888, HG03757, NA19247, HG01271, HG01914, HG03472, HG02807, HG02938, HG01257, NA19347, HG02511, HG00101, HG01630, HG02052, NA12890, HG01757, HG03237, NA20756, HG03589, HG03045, NA12812, NA19431, HG03708, NA20810, HG00123, NA19327, HG01886, NA12399, NA19399, HG03258, HG03077, HG01108, HG03270, HG03640, NA12045, HG01985, HG04015, HG00641, HG01489, HG02315, HG01479, HG00336, NA19454, NA20517, HG01789, NA19092, HG02493, NA20519, NA20339, HG02769, HG02839
Known GenesADCY3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590077
Frequency
Sample Size2504
Observed Gain0
Observed Loss117
Observed Complex0
Frequencyn/a


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