A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633729



Internal ID7020536
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14930695, essv14930693, essv14930694, essv14930692
SamplesNA11920, NA12275, HG01133, HG01334
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633729
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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