A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25778626



Internal ID19169730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196853900..196925196hg38UCSC Ensembl
Innerchr1:196823030..196894326hg19UCSC Ensembl
Innerchr1:195089653..195160949hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3871297
hg1971297
hg1871297
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890993
Supporting Variants
Samples
Known GenesCFHR4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=16
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25778626
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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