A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421555



Internal ID8252003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:23978359..24001198hg38UCSC Ensembl
Innerchr7:24017978..24040817hg19UCSC Ensembl
Innerchr7:23984503..24007342hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3822840
hg1922840
hg1822840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5096928, essv5055652, essv5058237, essv5012818, essv5077316, essv5051439, essv5089480, essv5090868, essv5014883, essv5074526, essv5057744, essv5004959
SamplesNA21383, NA21301, NA21382, NA21632, NA21307, NA21339, NA21302, NA21314, NA21311, NA21390, NA21582, NA21722
Known Genes
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)esv2421555
Frequency
Sample Size1184
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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