A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634430



Internal ID7021233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:48259429..48266510hg38UCSC Ensembl
Innerchr14:48259479..48266460hg38UCSC Ensembl
Outerchr14:48259379..48266560hg38UCSC Ensembl
chr14:48728632..48735713hg19UCSC Ensembl
Innerchr14:48728682..48735663hg19UCSC Ensembl
Outerchr14:48728582..48735763hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg387082
hg197082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15004550
SamplesHG03940
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634430
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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