A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15109976



Internal ID530769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102693271..102693793hg38UCSC Ensembl
Innerchr14:102693271..102693793hg38UCSC Ensembl
Outerchr14:102693105..102693957hg38UCSC Ensembl
chr14:103159608..103160130hg19UCSC Ensembl
Innerchr14:103159608..103160130hg19UCSC Ensembl
Outerchr14:103159442..103160294hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38523
hg19523
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635566
Supporting Variants
SamplesHG00231
Known GenesRCOR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15109976
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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