A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676547



Internal ID9942652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:51628786..51630486hg38UCSC Ensembl
Outerchr1:51628629..51630639hg38UCSC Ensembl
Innerchr1:52094458..52096158hg19UCSC Ensembl
Outerchr1:52094301..52096311hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382011
hg192011
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5568560, essv6088501, essv5477784, essv6201410
SamplesNA19725, HG01174, NA19785, HG01377
Known GenesOSBPL9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676547
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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