A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15069800



Internal ID5071616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77630281..77745656hg38UCSC Ensembl
Innerchr14:77630431..77745506hg38UCSC Ensembl
Outerchr14:77630131..77745806hg38UCSC Ensembl
chr14:78096624..78211999hg19UCSC Ensembl
Innerchr14:78096774..78211849hg19UCSC Ensembl
Outerchr14:78096474..78212149hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38115376
hg19115376
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635010
Supporting Variants
SamplesHG02562
Known GenesALKBH1, SLIRP, SNW1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15069800
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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