A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14925844



Internal ID3621834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20889644..20953797hg38UCSC Ensembl
Innerchr14:20889644..20953797hg38UCSC Ensembl
Outerchr14:20889437..20953965hg38UCSC Ensembl
chr14:21357803..21421956hg19UCSC Ensembl
Innerchr14:21357803..21421956hg19UCSC Ensembl
Outerchr14:21357596..21422124hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3864154
hg1964154
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633700
Supporting Variants
SamplesHG03212
Known GenesECRP, RNASE3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14925844
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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