A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984974



Internal ID12983822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:48408848..48950950hg38UCSC Ensembl
Innerchr11:48430400..48972502hg19UCSC Ensembl
Innerchr11:48386976..48929078hg18UCSC Ensembl
Innerchr11:48386976..48929078hg17UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38542103
hg19542103
hg18542103
hg17542103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751025
Supporting Variants
SamplesSPC_25
Known GenesOR4A47
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984974
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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