A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990444



Internal ID12634571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160042557..160648557hg38UCSC Ensembl
Innerchr6:160463589..161069589hg19UCSC Ensembl
Innerchr6:160383579..160989579hg18UCSC Ensembl
Innerchr6:160434000..161040000hg17UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38606001
hg19606001
hg18606001
hg17606001
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)essv6990444
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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