A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591457



Internal ID6978785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:81974238..82094482hg38UCSC Ensembl
chr2:82201362..82321606hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38120245
hg19120245
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10561559, essv10561560
SamplesHG00739, NA20528
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591457
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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