A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979705



Internal ID12980612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196854213..196917213hg38UCSC Ensembl
Innerchr1:196823343..196886343hg19UCSC Ensembl
Innerchr1:195089966..195152966hg18UCSC Ensembl
Innerchr1:193555000..193618000hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3863001
hg1963001
hg1863001
hg1763001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35048
Supporting Variants
SamplesNA18611
Known GenesCFHR4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979705
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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