A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980678



Internal ID12625117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:38550100..38584137hg38UCSC Ensembl
Innerchr21:39922024..39956061hg19UCSC Ensembl
Innerchr21:38843894..38877931hg18UCSC Ensembl
Innerchr21:38843894..38877931hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3834038
hg1934038
hg1834038
hg1734038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751930
Supporting Variants
SamplesBEC_104
Known GenesERG
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980678
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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