A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747055



Internal ID9981339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:19403292..19403927hg38UCSC Ensembl
Outerchr13:19977432..19978067hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38636
hg19636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6772175, essv6787865, essv6732245, essv6900421, essv6940463, essv6936271, essv6891372, essv6920326, essv6972228, essv6819834, essv6681695, essv6940006, essv6970945, essv6831415, essv6783673, essv6668278, essv6724614, essv6916234, essv6912721, essv6977430, essv6908979, essv6768589, essv6698830, essv6775814, essv6851386, essv6806887, essv6924461, essv6695679, essv6931965, essv6905015, essv6834985, essv6900713, essv6965980, essv6702571, essv6741173, essv6773342
SamplesSSM100, SSM008, SSM027, SSM045, SSM064, SSM065, SSM038, SSM097, SSM039, SSM013, SSM009, SSM028, SSM021, SSM047, SSM018, SSM069, SSM029, SSM017, SSM003, SSM014, SSM086, SSM033, SSM066, SSM068, SSM081, SSM082, SSM020, SSM015, SSM078, SSM016, SSM037, SSM022, SSM004, SSM052, SSM030, SSM012
Known Genes
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)esv2747055
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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