A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593967



Internal ID6981289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200834264..200840640hg38UCSC Ensembl
Innerchr2:200834414..200840490hg38UCSC Ensembl
Outerchr2:200834114..200840790hg38UCSC Ensembl
chr2:201698987..201705363hg19UCSC Ensembl
Innerchr2:201699137..201705213hg19UCSC Ensembl
Outerchr2:201698837..201705513hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg386377
hg196377
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10822991
SamplesHG01704
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593967
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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