A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797510



Internal ID19174559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180105944..180144357hg38UCSC Ensembl
Innerchr5:179532944..179571357hg19UCSC Ensembl
Innerchr5:179465550..179503963hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3838414
hg1938414
hg1838414
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890774
Supporting Variants
Samples
Known GenesRASGEF1C
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25797510
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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