A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988692



Internal ID12629933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44722946..44861146hg38UCSC Ensembl
Innerchr10:45218394..45356594hg19UCSC Ensembl
Innerchr10:44538400..44676600hg18UCSC Ensembl
Innerchr10:44538400..44676600hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38138201
hg19138201
hg18138201
hg17138201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750896
Supporting Variants
SamplesBEC_675
Known GenesTMEM72-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988692
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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