A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987047



Internal ID12978182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:100489253..100509253hg38UCSC Ensembl
Innerchr10:102249010..102269010hg19UCSC Ensembl
Innerchr10:102239000..102259000hg18UCSC Ensembl
Innerchr10:102239000..102259000hg17UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg3820001
hg1920001
hg1820001
hg1720001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34217
Supporting Variants
SamplesNA07029
Known GenesSEC31B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987047
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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