A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594671



Internal ID6981991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233213726..233214907hg38UCSC Ensembl
Innerchr2:233213783..233214851hg38UCSC Ensembl
Outerchr2:233213670..233214964hg38UCSC Ensembl
chr2:234122372..234123553hg19UCSC Ensembl
Innerchr2:234122429..234123497hg19UCSC Ensembl
Outerchr2:234122316..234123610hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381182
hg191182
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10879461, essv10879460
SamplesNA19119, HG03600
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594671
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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