A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5061773



Internal ID7805631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:6085750..6098480hg38UCSC Ensembl
Innerchr7:6125381..6138111hg19UCSC Ensembl
Innerchr7:6091907..6104637hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3812731
hg1912731
hg1812731
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421713
Supporting Variants
SamplesNA19834
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)essv5061773
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer