A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15052605



Internal ID4824341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70221112..70222745hg38UCSC Ensembl
Innerchr14:70221113..70222745hg38UCSC Ensembl
Outerchr14:70221112..70222746hg38UCSC Ensembl
chr14:70687829..70689462hg19UCSC Ensembl
Innerchr14:70687830..70689462hg19UCSC Ensembl
Outerchr14:70687829..70689463hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg381634
hg191634
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634853
Supporting Variants
SamplesNA12044
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15052605
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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