A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622213



Internal ID6662383
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13685253, essv13685254
SamplesNA20868, NA20911
Known GenesAKR1C1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622213
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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