A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10787259



Internal ID1212675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181846661..181930879hg38UCSC Ensembl
chr2:182711388..182795606hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3884219
hg1984219
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593551
Supporting Variants
SamplesHG01079
Known GenesSSFA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10787259
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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