A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591771



Internal ID6979099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101513046..101525171hg38UCSC Ensembl
chr2:102129508..102141633hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3812126
hg1912126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv722e214
Supporting Variantsessv10597344, essv10597343, essv10597342
SamplesNA20346, NA20340, HG01807
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591771
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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