A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750976



Internal ID12637842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:9241541..10381631hg38UCSC Ensembl
Innerchr10:9283504..10423594hg19UCSC Ensembl
Innerchr10:9323510..10463600hg18UCSC Ensembl
Innerchr10:9323510..10463600hg17UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg381140091
hg191140091
hg181140091
hg171140091
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981712, essv6985651, essv6981711, essv6981710, essv6985650
SamplesBEC_328
Known GenesLINC00709
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)esv2750976
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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