A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15051765



Internal ID1791947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69348635..69349396hg38UCSC Ensembl
Innerchr14:69348638..69349394hg38UCSC Ensembl
Outerchr14:69348633..69349399hg38UCSC Ensembl
chr14:69815352..69816113hg19UCSC Ensembl
Innerchr14:69815355..69816111hg19UCSC Ensembl
Outerchr14:69815350..69816116hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38762
hg19762
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634835
Supporting Variants
SamplesHG01673
Known GenesGALNT16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15051765
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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