A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750852



Internal ID12637718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:132797506..132852920hg38UCSC Ensembl
Innerchr10:134611010..134666424hg19UCSC Ensembl
Innerchr10:134461000..134516414hg18UCSC Ensembl
Innerchr10:134461000..134516414hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3855415
hg1955415
hg1855415
hg1755415
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988449, essv6981769
SamplesBEC_466
Known GenesTTC40
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750852
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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