A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984673



Internal ID12636652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196762018..196917640hg38UCSC Ensembl
Innerchr1:196731148..196886770hg19UCSC Ensembl
Innerchr1:194997771..195153393hg18UCSC Ensembl
Innerchr1:193462805..193618427hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38155623
hg19155623
hg18155623
hg17155623
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750822
Supporting Variants
SamplesSPC_165
Known GenesCFHR1, CFHR3, CFHR4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984673
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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