A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892545



Internal ID19183365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:51460614..51520605hg38UCSC Ensembl
Outerchr14:51460614..51520605hg38UCSC Ensembl
Innerchr14:51927332..51987323hg19UCSC Ensembl
Outerchr14:51927332..51987323hg19UCSC Ensembl
Innerchr14:50997082..51057073hg18UCSC Ensembl
Outerchr14:50997082..51057073hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3859992
hg1959992
hg1859992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25782220
Samples
Known GenesFRMD6, FRMD6-AS2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892545
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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