A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12179502



Internal ID1950202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:4491905..4517955hg38UCSC Ensembl
chr6:4492139..4518189hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg3826051
hg1926051
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607946
Supporting Variants
SamplesHG01808
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12179502
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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