A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594736



Internal ID6635012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236920916..236922344hg38UCSC Ensembl
Innerchr2:236920963..236922298hg38UCSC Ensembl
Outerchr2:236920870..236922391hg38UCSC Ensembl
chr2:237829559..237830987hg19UCSC Ensembl
Innerchr2:237829606..237830941hg19UCSC Ensembl
Outerchr2:237829513..237831034hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381429
hg191429
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10886509, essv10886508, essv10886510
SamplesNA19452, NA19467, HG02239
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594736
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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