A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8670693



Internal ID13655203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72444764..72444891hg38UCSC Ensembl
Innerchr14:72444771..72444884hg38UCSC Ensembl
Outerchr14:72444757..72444898hg38UCSC Ensembl
chr14:72911472..72911599hg19UCSC Ensembl
Innerchr14:72911479..72911592hg19UCSC Ensembl
Outerchr14:72911465..72911606hg19UCSC Ensembl
chr14:71981225..71981352hg18UCSC Ensembl
Innerchr14:71981232..71981345hg18UCSC Ensembl
Outerchr14:71981218..71981359hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38128
hg19128
hg18128
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3425386
Supporting Variants
SamplesNA12878
Known GenesRGS6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8670693
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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