A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890993



Internal ID19185389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196854170..196913214hg38UCSC Ensembl
Outerchr1:196830507..196932623hg38UCSC Ensembl
Innerchr1:196823300..196882344hg19UCSC Ensembl
Outerchr1:196799637..196901753hg19UCSC Ensembl
Innerchr1:195089923..195148967hg18UCSC Ensembl
Outerchr1:195066260..195168376hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38102117
hg19102117
hg18102117
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796281, essv25789895, essv25787965, essv25787874, essv25788678, essv25798645, essv25799408, essv25786739, essv25778626, essv25794509, essv25783464, essv25795986, essv25780275, essv25801499, essv25790795, essv25796484, essv25792622, essv25796786, essv25799752, essv25796005, essv25796949, essv25784135, essv25799398, essv25801004, essv25801013, essv25783110, essv25797057, essv25800364, essv25796008, essv25800782, essv25796908, essv25801486, essv25801341, essv25800980, essv25779823, essv25786112, essv25788194, essv25800373
Samples
Known GenesCFHR1, CFHR4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890993
Frequency
Sample Size3017
Observed Gain7
Observed Loss31
Observed Complex0
Frequencyn/a


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