A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421625



Internal ID7905387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88041424..88043077hg38UCSC Ensembl
Innerchr7:87670739..87672392hg19UCSC Ensembl
Innerchr7:87508675..87510328hg18UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg381654
hg191654
hg181654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5132055, essv5151995, essv5154041, essv5013127, essv5149478, essv5125856, essv5091680, essv5127189, essv5096420, essv5093259, essv5042696, essv5073663, essv5045162
SamplesNA10831, NA12818, NA12342, NA10863, NA12829, NA12400, NA12234, NA12890, NA06984, NA12156, NA10835, NA12248, NA20792
Known GenesADAM22
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)esv2421625
Frequency
Sample Size1184
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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