A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35037



Internal ID12991073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196762018..196913213hg38UCSC Ensembl
Innerchr1:196731148..196882343hg19UCSC Ensembl
Innerchr1:194997771..195148966hg18UCSC Ensembl
Innerchr1:193462805..193614000hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38151196
hg19151196
hg18151196
hg17151196
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11e55
Supporting Variantsessv6979485, essv6979484
SamplesNA18563
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)esv35037
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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