A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985021



Internal ID12631262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133463150..133560264hg38UCSC Ensembl
Innerchr10:135276654..135373768hg19UCSC Ensembl
Innerchr10:135126644..135223758hg18UCSC Ensembl
Innerchr10:135165535..135262649hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3897115
hg1997115
hg1897115
hg1797115
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750880
Supporting Variants
SamplesBEC_820
Known GenesCYP2E1, SCART1, SYCE1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985021
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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