A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622623



Internal ID7009481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:23970257..23974102hg38UCSC Ensembl
Innerchr10:23970270..23974089hg38UCSC Ensembl
Outerchr10:23970244..23974115hg38UCSC Ensembl
chr10:24259186..24263031hg19UCSC Ensembl
Innerchr10:24259199..24263018hg19UCSC Ensembl
Outerchr10:24259173..24263044hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg383846
hg193846
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13717536
SamplesHG00382
Known GenesKIAA1217
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622623
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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