A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891015



Internal ID19185411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196854170..196886173hg38UCSC Ensembl
Outerchr1:196851286..196898103hg38UCSC Ensembl
Innerchr1:196823300..196855303hg19UCSC Ensembl
Outerchr1:196820416..196867233hg19UCSC Ensembl
Innerchr1:195089923..195121926hg18UCSC Ensembl
Outerchr1:195087039..195133856hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3846818
hg1946818
hg1846818
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25785913, essv25797755, essv25798791, essv25799390, essv25781464, essv25795594, essv25801512
Samples
Known GenesCFHR4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891015
Frequency
Sample Size3017
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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