A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5076599



Internal ID7820457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:78259348..78325468hg38UCSC Ensembl
Innerchr6:78969065..79035185hg19UCSC Ensembl
Innerchr6:79025784..79091904hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3866121
hg1966121
hg1866121
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422170
Supporting Variants
SamplesNA19781
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)essv5076599
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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