A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788881



Internal ID19180999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:127347724..127495596hg38UCSC Ensembl
Innerchr5:126683416..126831288hg19UCSC Ensembl
Innerchr5:126711315..126859187hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38147873
hg19147873
hg18147873
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890733
Supporting Variants
Samples
Known GenesMEGF10
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=26
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788881
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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