A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634742



Internal ID7021543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63991359..63993983hg38UCSC Ensembl
Innerchr14:63991402..63993940hg38UCSC Ensembl
Outerchr14:63991316..63994026hg38UCSC Ensembl
chr14:64458077..64460701hg19UCSC Ensembl
Innerchr14:64458120..64460658hg19UCSC Ensembl
Outerchr14:64458034..64460744hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg382625
hg192625
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15040492
SamplesHG02667
Known GenesMIR548AZ, SYNE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634742
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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