A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979484



Internal ID12980265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196762018..196912470hg38UCSC Ensembl
Innerchr1:196731148..196881600hg19UCSC Ensembl
Innerchr1:194997771..195148223hg18UCSC Ensembl
Innerchr1:193462805..193613257hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38150453
hg19150453
hg18150453
hg17150453
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35037
Supporting Variants
SamplesNA18563
Known GenesCFHR1, CFHR3, CFHR4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979484
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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