A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785856



Internal ID19180701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:122233974..122278005hg38UCSC Ensembl
Innerchr5:121569669..121613700hg19UCSC Ensembl
Innerchr5:121597568..121641599hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3844032
hg1944032
hg1844032
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890731
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785856
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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