A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750895



Internal ID12637761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44707669..44861115hg38UCSC Ensembl
Innerchr10:45203117..45356563hg19UCSC Ensembl
Innerchr10:44523123..44676569hg18UCSC Ensembl
Innerchr10:44523123..44676569hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38153447
hg19153447
hg18153447
hg17153447
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv21e55
Supporting Variantsessv6983196, essv6983194, essv6986366, essv6983195
SamplesBEC_554
Known GenesTMEM72-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750895
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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