A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750823



Internal ID12984375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196764003..196917640hg38UCSC Ensembl
Innerchr1:196733133..196886770hg19UCSC Ensembl
Innerchr1:194999756..195153393hg18UCSC Ensembl
Innerchr1:193464790..193618427hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38153638
hg19153638
hg18153638
hg17153638
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv13e55
Supporting Variantsessv6982794, essv6982793, essv6986261
SamplesBEC_594
Known GenesCFHR1, CFHR3, CFHR4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750823
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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