A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594504



Internal ID6981824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225964397..225966283hg38UCSC Ensembl
Innerchr2:225964410..225966271hg38UCSC Ensembl
Outerchr2:225964385..225966296hg38UCSC Ensembl
chr2:226829113..226830999hg19UCSC Ensembl
Innerchr2:226829126..226830987hg19UCSC Ensembl
Outerchr2:226829101..226831012hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg381887
hg191887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10868427, essv10868425, essv10868426
SamplesNA19374, NA19024, NA19474
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594504
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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