A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5996346



Internal ID9044808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:25142400..25144320hg38UCSC Ensembl
Outerchr14:25142243..25144473hg38UCSC Ensembl
Innerchr14:25611606..25613526hg19UCSC Ensembl
Outerchr14:25611449..25613679hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg382231
hg192231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658987
Supporting Variants
SamplesHG00689
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5996346
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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