A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790074



Internal ID18815889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:79413244..79635231hg38UCSC Ensembl
Innerchr6:80122961..80344948hg19UCSC Ensembl
Innerchr6:80179680..80401667hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38221988
hg19221988
hg18221988
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890891
Supporting Variants
Samples
Known GenesLCA5, SH3BGRL2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=61
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790074
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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