A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5154590



Internal ID8148286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:28047590..28050779hg38UCSC Ensembl
Innerchr9:28047588..28050777hg19UCSC Ensembl
Innerchr9:28037588..28040777hg18UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg383190
hg193190
hg183190
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422138
Supporting Variants
SamplesNA18969
Known GenesLINGO2
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)essv5154590
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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