A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675881



Internal ID9941986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:31983216..31986452hg38UCSC Ensembl
Outerchr1:31983059..31986605hg38UCSC Ensembl
Innerchr1:32448817..32452053hg19UCSC Ensembl
Outerchr1:32448660..32452206hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg383547
hg193547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6542586, essv5568099, essv5765278, essv5870725
SamplesHG00449, NA19062, NA18564, HG00614
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675881
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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