A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14818068



Internal ID4888142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:81261721..81388752hg38UCSC Ensembl
Innerchr13:81261721..81388752hg38UCSC Ensembl
Outerchr13:81261221..81389252hg38UCSC Ensembl
chr13:81835856..81962887hg19UCSC Ensembl
Innerchr13:81835856..81962887hg19UCSC Ensembl
Outerchr13:81835356..81963387hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38127032
hg19127032
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632858
Supporting Variants
SamplesNA12400
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14818068
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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