A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662293



Internal ID9928398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39374097..39529303hg38UCSC Ensembl
Outerchr8:39373726..39529673hg38UCSC Ensembl
Innerchr8:39231616..39386822hg19UCSC Ensembl
Outerchr8:39231245..39387192hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38155948
hg19155948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1282e199
Supporting Variantsessv5525468, essv6029680, essv6475159, essv6392844, essv6415017, essv5743831, essv5628139, essv5947533, essv6223190, essv5858662, essv5555495, essv5885602, essv5616231, essv5811320, essv6212922, essv6000430, essv5973800, essv6523615, essv6253567, essv5877763, essv6593101, essv6572406, essv5872124, essv6070244, essv5433208, essv6158883, essv5802686, essv5888819
SamplesHG00442, HG00536, HG00608, HG00559, HG00699, HG00702, HG00590, HG00530, HG00464, HG00543, HG00560, HG00428, HG00657, HG00475, HG00500, HG00635, HG00651, HG00690, HG00531, HG00684, HG00625, HG00418, HG00672, HG00513, HG00578, HG00478, HG00656, HG00581
Known GenesADAM3A, ADAM5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662293
Frequency
Sample Size1151
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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