A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978398



Internal ID12635203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:114144141..115141635hg38UCSC Ensembl
Innerchr6:114465305..115462799hg19UCSC Ensembl
Innerchr6:114571998..115569492hg18UCSC Ensembl
Innerchr6:114571998..115569492hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38997495
hg19997495
hg18997495
hg17997495
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34434
Supporting Variants
SamplesNA19092
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978398
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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