A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694671



Internal ID14738240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176871545..176873543hg38UCSC Ensembl
Innerchr5:176872543..176872545hg38UCSC Ensembl
Outerchr5:176870545..176874543hg38UCSC Ensembl
chr5:176298546..176300544hg19UCSC Ensembl
Innerchr5:176299544..176299546hg19UCSC Ensembl
Outerchr5:176297546..176301544hg19UCSC Ensembl
chr5:176231152..176233150hg18UCSC Ensembl
Innerchr5:176232152..176232150hg18UCSC Ensembl
Outerchr5:176230152..176234150hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3381355
Supporting Variants
SamplesNA19240
Known GenesUNC5A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694671
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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