A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865762



Internal ID13318051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72906610..72906624hg38UCSC Ensembl
Innerchr14:72906585..72906649hg38UCSC Ensembl
Outerchr14:72906571..72906663hg38UCSC Ensembl
chr14:73373318..73373332hg19UCSC Ensembl
Innerchr14:73373293..73373357hg19UCSC Ensembl
Outerchr14:73373279..73373371hg19UCSC Ensembl
chr14:72443071..72443085hg18UCSC Ensembl
Innerchr14:72443110..72443046hg18UCSC Ensembl
Outerchr14:72443032..72443124hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3364184
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865762
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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