A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983230



Internal ID12628355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133463150..133558806hg38UCSC Ensembl
Innerchr10:135276654..135372310hg19UCSC Ensembl
Innerchr10:135126644..135222300hg18UCSC Ensembl
Innerchr10:135165535..135261191hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3895657
hg1995657
hg1895657
hg1795657
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750875
Supporting Variants
SamplesBEC_558
Known GenesCYP2E1, SCART1, SYCE1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983230
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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