A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982367



Internal ID12626943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44712577..44861115hg38UCSC Ensembl
Innerchr10:45208025..45356563hg19UCSC Ensembl
Innerchr10:44528031..44676569hg18UCSC Ensembl
Innerchr10:44528031..44676569hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38148539
hg19148539
hg18148539
hg17148539
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750893
Supporting Variants
SamplesBEC_428
Known GenesTMEM72-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982367
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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