A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9991361



Internal ID6616654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:81318442..81321675hg38UCSC Ensembl
Innerchr1:81318476..81321642hg38UCSC Ensembl
Outerchr1:81318409..81321709hg38UCSC Ensembl
chr1:81784127..81787360hg19UCSC Ensembl
Innerchr1:81784161..81787327hg19UCSC Ensembl
Outerchr1:81784094..81787394hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383234
hg193234
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586612
Supporting Variants
SamplesNA19323
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9991361
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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