A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593165



Internal ID6633445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161693123..161711776hg38UCSC Ensembl
Innerchr2:161693123..161711776hg38UCSC Ensembl
Outerchr2:161692623..161712276hg38UCSC Ensembl
chr2:162549633..162568286hg19UCSC Ensembl
Innerchr2:162549633..162568286hg19UCSC Ensembl
Outerchr2:162549133..162568786hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3818654
hg1918654
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10740664, essv10740665, essv10740663
SamplesNA19355, HG03455, NA18984
Known GenesSLC4A10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593165
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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