A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12050651



Internal ID3526890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126333314..126349704hg38UCSC Ensembl
chr5:125669006..125685396hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3816391
hg1916391
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606674
Supporting Variants
SamplesHG03121
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12050651
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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