A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747051



Internal ID9981335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:19199145..19701796hg38UCSC Ensembl
Outerchr13:19773285..20275936hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38502652
hg19502652
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6772175, essv6706315, essv6673333, essv6787865, essv6732245, essv6773353, essv6763471, essv6706317, essv6809465, essv6900421, essv6812301, essv6940463, essv6749766, essv6936271, essv6768590, essv6876756, essv6891372, essv6920326, essv6972228, essv6936272, essv6744113, essv6685182, essv6846040, essv6819834, essv6681695, essv6940006, essv6823746, essv6773364, essv6835665, essv6970945, essv6846041, essv6831415, essv6783673, essv6949201, essv6711787, essv6668278, essv6772177, essv6806898, essv6724614, essv6741175, essv6916234, essv6912721, essv6977429, essv6977430, essv6803583, essv6834984, essv6908979, essv6876757, essv6842552, essv6768589, essv6698830, essv6775814, essv6851386, essv6765842, essv6806887, essv6924463, essv6879566, essv6931966, essv6746936, essv6924461, essv6695679, essv6819835, essv6761066, essv6931965, essv6838733, essv6905015, essv6834985, essv6773331, essv6900713, essv6711776, essv6791969, essv6965980, essv6900410, essv6741174, essv6724613, essv6702570, essv6702571, essv6741173, essv6857388, essv6953348, essv6773342, essv6706316, essv6758300
SamplesSSM100, SSM059, SSM008, SSM083, SSM027, SSM024, SSM075, SSM045, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM062, SSM017, SSM003, SSM031, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM082, SSM020, SSM015, SSM078, SSM016, SSM053, SSM037, SSM076, SSM022, SSM010, SSM055, SSM070, SSM025, SSM034, SSM004, SSM052, SSM056, SSM030, SSM063, SSM012
Known GenesANKRD26P3, LINC00421, MPHOSPH8, PSPC1, TPTE2
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2747051
Frequency
Sample Size96
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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