A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592965



Internal ID6980292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:153756880..153767919hg38UCSC Ensembl
Innerchr2:153756880..153767919hg38UCSC Ensembl
Outerchr2:153756755..153767987hg38UCSC Ensembl
chr2:154613393..154624432hg19UCSC Ensembl
Innerchr2:154613393..154624432hg19UCSC Ensembl
Outerchr2:154613268..154624500hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3811040
hg1911040
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10717162
SamplesHG01992
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592965
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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