A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13685253



Internal ID3687069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:4961614..4965341hg38UCSC Ensembl
Innerchr10:4961640..4965316hg38UCSC Ensembl
Outerchr10:4961589..4965367hg38UCSC Ensembl
chr10:5003806..5007533hg19UCSC Ensembl
Innerchr10:5003832..5007508hg19UCSC Ensembl
Outerchr10:5003781..5007559hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg383728
hg193728
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622213
Supporting Variants
SamplesNA20868
Known GenesAKR1C1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13685253
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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