A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10674120



Internal ID675936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131333407..131384799hg38UCSC Ensembl
chr2:132090980..132142372hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3851393
hg1951393
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592475
Supporting Variants
SamplesHG00565
Known GenesWTH3DI
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10674120
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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