A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12367421



Internal ID6679416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57242211..57306382hg38UCSC Ensembl
chr6:57107009..57171180hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg3864172
hg1964172
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609118
Supporting Variants
SamplesNA20813
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12367421
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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