A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796949



Internal ID19171942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196854170..196932622hg38UCSC Ensembl
Innerchr1:196823300..196901752hg19UCSC Ensembl
Innerchr1:195089923..195168375hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3878453
hg1978453
hg1878453
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 Human OmniExpress
CommentsNumber of probes=11
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796949
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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