A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656883



Internal ID9922988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12850975..12852263hg38UCSC Ensembl
Outerchr10:12850790..12852466hg38UCSC Ensembl
Innerchr10:12892975..12894263hg19UCSC Ensembl
Outerchr10:12892790..12894466hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg381677
hg191677
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6169996, essv5842874, essv5460931, essv6586181, essv6075160, essv6175443, essv6153603, essv6507132, essv6412849
SamplesNA19399, NA19904, NA19235, NA19338, NA19390, NA19380, NA19398, HG01082, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656883
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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