A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987267



Internal ID12637376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31445144..31489844hg38UCSC Ensembl
Innerchr6:31412921..31457621hg19UCSC Ensembl
Innerchr6:31520900..31565600hg18UCSC Ensembl
Innerchr6:31520900..31565600hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3844701
hg1944701
hg1844701
hg1744701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752115
Supporting Variants
SamplesSPC_54
Known GenesHCG26, HCP5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987267
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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