A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14930692



Internal ID4932508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21722715..21728038hg38UCSC Ensembl
Innerchr14:21722715..21728038hg38UCSC Ensembl
Outerchr14:21722583..21728179hg38UCSC Ensembl
chr14:22190962..22196312hg19UCSC Ensembl
Innerchr14:22190962..22196312hg19UCSC Ensembl
Outerchr14:22190830..22196453hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg385324
hg195351
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633729
Supporting Variants
SamplesHG01133
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14930692
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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