A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5042206



Internal ID8222780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:115943399..115946380hg38UCSC Ensembl
Innerchr7:115583453..115586434hg19UCSC Ensembl
Innerchr7:115370689..115373670hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg382982
hg192982
hg182982
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421737
Supporting Variants
SamplesNA20903
Known GenesTFEC
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)essv5042206
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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