A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15052670



Internal ID4185885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70239390..70243323hg38UCSC Ensembl
Innerchr14:70239394..70243320hg38UCSC Ensembl
Outerchr14:70239387..70243327hg38UCSC Ensembl
chr14:70706107..70710040hg19UCSC Ensembl
Innerchr14:70706111..70710037hg19UCSC Ensembl
Outerchr14:70706104..70710044hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg383934
hg193934
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634856
Supporting Variants
SamplesHG03778
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15052670
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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