A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790264



Internal ID18831148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:31629905..31723448hg38UCSC Ensembl
Innerchr5:31630012..31723555hg19UCSC Ensembl
Innerchr5:31665769..31759312hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3893544
hg1993544
hg1893544
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894169
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=60
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790264
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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