A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982873



Internal ID12628993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:138398170..138555170hg38UCSC Ensembl
Innerchr6:138719307..138876307hg19UCSC Ensembl
Innerchr6:138761000..138918000hg18UCSC Ensembl
Innerchr6:138761000..138918000hg17UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38157001
hg19157001
hg18157001
hg17157001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752090
Supporting Variants
SamplesBEC_606
Known GenesHEBP2, MIR3145, NHSL1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982873
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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