A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14952608



Internal ID5619981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30485755..30492529hg38UCSC Ensembl
Innerchr14:30485755..30492529hg38UCSC Ensembl
Outerchr14:30485537..30492813hg38UCSC Ensembl
chr14:30954961..30961735hg19UCSC Ensembl
Innerchr14:30954961..30961735hg19UCSC Ensembl
Outerchr14:30954743..30962019hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg386775
hg196775
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633953
Supporting Variants
SamplesNA19043
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14952608
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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