A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15114736



Internal ID3222987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104523968..104535758hg38UCSC Ensembl
Innerchr14:104523991..104535735hg38UCSC Ensembl
Outerchr14:104523945..104535781hg38UCSC Ensembl
chr14:104990305..105002095hg19UCSC Ensembl
Innerchr14:104990328..105002072hg19UCSC Ensembl
Outerchr14:104990282..105002118hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3811791
hg1911791
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635622
Supporting Variants
SamplesHG02836
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15114736
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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