A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593164



Internal ID6633444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161661998..161700989hg38UCSC Ensembl
Innerchr2:161661998..161700989hg38UCSC Ensembl
Outerchr2:161661498..161701489hg38UCSC Ensembl
chr2:162518508..162557499hg19UCSC Ensembl
Innerchr2:162518508..162557499hg19UCSC Ensembl
Outerchr2:162518008..162557999hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3838992
hg1938992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10740662, essv10740661
SamplesNA19355, HG03455
Known GenesSLC4A10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593164
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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