A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987645



Internal ID12636657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196762043..197024843hg38UCSC Ensembl
Innerchr1:196731173..196993973hg19UCSC Ensembl
Innerchr1:194997796..195260596hg18UCSC Ensembl
Innerchr1:193462830..193725630hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38262801
hg19262801
hg18262801
hg17262801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750822
Supporting Variants
SamplesSPC_165
Known GenesCFHR1, CFHR2, CFHR3, CFHR4, CFHR5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987645
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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