A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635479



Internal ID7022278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99105811..99113530hg38UCSC Ensembl
Innerchr14:99105811..99113530hg38UCSC Ensembl
Outerchr14:99105311..99114030hg38UCSC Ensembl
chr14:99572148..99579867hg19UCSC Ensembl
Innerchr14:99572148..99579867hg19UCSC Ensembl
Outerchr14:99571648..99580367hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg387720
hg197720
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15107069, essv15107067, essv15107068
SamplesNA19190, HG03499, HG02508
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635479
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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