A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593074



Internal ID6980398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158302636..158306285hg38UCSC Ensembl
Innerchr2:158302636..158306285hg38UCSC Ensembl
Outerchr2:158302521..158306353hg38UCSC Ensembl
chr2:159159148..159162797hg19UCSC Ensembl
Innerchr2:159159148..159162797hg19UCSC Ensembl
Outerchr2:159159033..159162865hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg383650
hg193650
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10726937, essv10726936, essv10726935
SamplesHG02922, NA18874, HG03077
Known GenesCCDC148
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593074
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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