A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10496215



Internal ID1676446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:49175480..49309624hg38UCSC Ensembl
chr2:49402619..49536763hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38134145
hg19134145
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590677
Supporting Variants
SamplesHG01536
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10496215
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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