A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890891



Internal ID18838601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:79413244..79635231hg38UCSC Ensembl
Outerchr6:79406146..79635231hg38UCSC Ensembl
Innerchr6:80122961..80344948hg19UCSC Ensembl
Outerchr6:80115863..80344948hg19UCSC Ensembl
Innerchr6:80179680..80401667hg18UCSC Ensembl
Outerchr6:80172582..80401667hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38229086
hg19229086
hg18229086
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790074, essv25790742
Samples
Known GenesLCA5, SH3BGRL2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890891
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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