A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985051



Internal ID12631304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44715242..44856971hg38UCSC Ensembl
Innerchr10:45210690..45352419hg19UCSC Ensembl
Innerchr10:44530696..44672425hg18UCSC Ensembl
Innerchr10:44530696..44672425hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38141730
hg19141730
hg18141730
hg17141730
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750894
Supporting Variants
SamplesBEC_830
Known GenesTMEM72-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985051
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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