A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987004



Internal ID12634577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160001557..160559557hg38UCSC Ensembl
Innerchr6:160422589..160980589hg19UCSC Ensembl
Innerchr6:160342579..160900579hg18UCSC Ensembl
Innerchr6:160393000..160951000hg17UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38558001
hg19558001
hg18558001
hg17558001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35098
Supporting Variants
SamplesNA18953
Known GenesAIRN, IGF2R, LOC729603, LPA, LPAL2, SLC22A1, SLC22A2, SLC22A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987004
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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