A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985052



Internal ID12631303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44715246..44856946hg38UCSC Ensembl
Innerchr10:45210694..45352394hg19UCSC Ensembl
Innerchr10:44530700..44672400hg18UCSC Ensembl
Innerchr10:44530700..44672400hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38141701
hg19141701
hg18141701
hg17141701
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)essv6985052
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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