A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14955018



Internal ID4316798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31293032..31297542hg38UCSC Ensembl
Innerchr14:31293072..31297502hg38UCSC Ensembl
Outerchr14:31292992..31297582hg38UCSC Ensembl
chr14:31762238..31766748hg19UCSC Ensembl
Innerchr14:31762278..31766708hg19UCSC Ensembl
Outerchr14:31762198..31766788hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg384511
hg194511
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633966
Supporting Variants
SamplesHG03867
Known GenesHEATR5A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14955018
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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