A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14953288



Internal ID896119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30750642..30756401hg38UCSC Ensembl
Innerchr14:30750642..30756401hg38UCSC Ensembl
Outerchr14:30750366..30756680hg38UCSC Ensembl
chr14:31219848..31225607hg19UCSC Ensembl
Innerchr14:31219848..31225607hg19UCSC Ensembl
Outerchr14:31219572..31225886hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg385760
hg195760
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633959
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14953288
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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