A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989183



Internal ID12982626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:193694146..193741066hg38UCSC Ensembl
Innerchr1:193663276..193710196hg19UCSC Ensembl
Innerchr1:191929899..191976819hg18UCSC Ensembl
Innerchr1:190394933..190441853hg17UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3846921
hg1946921
hg1846921
hg1746921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34261
Supporting Variants
SamplesNA19209
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989183
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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