A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987005



Internal ID12634578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160011299..160649838hg38UCSC Ensembl
Innerchr6:160432331..161070870hg19UCSC Ensembl
Innerchr6:160352321..160990860hg18UCSC Ensembl
Innerchr6:160402742..161041281hg17UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38638540
hg19638540
hg18638540
hg17638540
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35098
Supporting Variants
SamplesNA18953
Known GenesIGF2R, LOC729603, LPA, LPAL2, SLC22A1, SLC22A2, SLC22A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987005
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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