A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15107082



Internal ID5108898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99582220..99590395hg38UCSC Ensembl
Innerchr14:99582227..99590389hg38UCSC Ensembl
Outerchr14:99582214..99590402hg38UCSC Ensembl
chr14:100048557..100056732hg19UCSC Ensembl
Innerchr14:100048564..100056726hg19UCSC Ensembl
Outerchr14:100048551..100056739hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg388176
hg198176
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635483
Supporting Variants
SamplesNA19917
Known GenesCCDC85C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15107082
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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