A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750962



Internal ID12637828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52972795..55555375hg38UCSC Ensembl
Innerchr10:54732555..57315135hg19UCSC Ensembl
Innerchr10:54402561..56985141hg18UCSC Ensembl
Innerchr10:54402561..56985141hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg382582581
hg192582581
hg182582581
hg172582581
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989783, essv6989784, essv6989363, essv6983404, essv6983403
SamplesBEC_649
Known GenesPCDH15, RNU6-59P
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)esv2750962
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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