A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3425812



Internal ID15272769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72499479..72499502hg38UCSC Ensembl
Innerchr5:72499484..72499497hg38UCSC Ensembl
Outerchr5:72499474..72499507hg38UCSC Ensembl
chr5:71795306..71795329hg19UCSC Ensembl
Innerchr5:71795311..71795324hg19UCSC Ensembl
Outerchr5:71795301..71795334hg19UCSC Ensembl
chr5:71831062..71831085hg18UCSC Ensembl
Innerchr5:71831067..71831080hg18UCSC Ensembl
Outerchr5:71831057..71831090hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864471
SamplesNA12005
Known GenesZNF366
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3425812
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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