A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14972049



Internal ID665465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:38440891..38443437hg38UCSC Ensembl
Innerchr14:38440891..38443437hg38UCSC Ensembl
Outerchr14:38440633..38443679hg38UCSC Ensembl
chr14:38910095..38912641hg19UCSC Ensembl
Innerchr14:38910095..38912641hg19UCSC Ensembl
Outerchr14:38909837..38912883hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg382547
hg192547
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634114
Supporting Variants
SamplesHG00309
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14972049
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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