A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15080045



Internal ID1269009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81426277..81429953hg38UCSC Ensembl
Innerchr14:81426277..81429953hg38UCSC Ensembl
Outerchr14:81426014..81430219hg38UCSC Ensembl
chr14:81892621..81896297hg19UCSC Ensembl
Innerchr14:81892621..81896297hg19UCSC Ensembl
Outerchr14:81892358..81896563hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg383677
hg193677
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635087
Supporting Variants
SamplesHG01119
Known GenesSTON2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15080045
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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