A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984063



Internal ID12630944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:19190511..21000411hg38UCSC Ensembl
Innerchr21:20562829..22372729hg19UCSC Ensembl
Innerchr21:19484700..21294600hg18UCSC Ensembl
Innerchr21:19484700..21294600hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg381809901
hg191809901
hg181809901
hg171809901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751925
Supporting Variants
SamplesBEC_765
Known GenesLINC00320, NCAM2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984063
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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