A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593526



Internal ID6980850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180451838..180454553hg38UCSC Ensembl
Innerchr2:180451838..180454553hg38UCSC Ensembl
Outerchr2:180451770..180454704hg38UCSC Ensembl
chr2:181316565..181319280hg19UCSC Ensembl
Innerchr2:181316565..181319280hg19UCSC Ensembl
Outerchr2:181316497..181319431hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg382716
hg192716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10784734, essv10784733
SamplesNA19681, NA19652
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593526
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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