A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421482



Internal ID8251930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:5900408..5911303hg38UCSC Ensembl
Innerchr7:5940039..5950934hg19UCSC Ensembl
Innerchr7:5906565..5917460hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3810896
hg1910896
hg1810896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5157786, essv5138561, essv5006454, essv5038247, essv5113288, essv5009004, essv5079971, essv5072145, essv5105592, essv5112412, essv5074311, essv5070912, essv5072750, essv5019671, essv5131686
SamplesNA18959, NA18969, NA18563, NA18944, NA18635, NA18614, NA18140, NA21448, NA18537, NA18943, NA18610, NA17982, NA20345, NA21363, NA18577
Known GenesCCZ1
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)esv2421482
Frequency
Sample Size1184
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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