A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978400



Internal ID12635208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:114227143..115141143hg38UCSC Ensembl
Innerchr6:114548307..115462307hg19UCSC Ensembl
Innerchr6:114655000..115569000hg18UCSC Ensembl
Innerchr6:114655000..115569000hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38914001
hg19914001
hg18914001
hg17914001
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)essv6978400
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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