A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8970895



Internal ID12888973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82909479..82909527hg38UCSC Ensembl
Innerchr16:82909502..82909502hg38UCSC Ensembl
Outerchr16:82909454..82909550hg38UCSC Ensembl
chr16:82943084..82943132hg19UCSC Ensembl
Innerchr16:82943107..82943107hg19UCSC Ensembl
Outerchr16:82943059..82943155hg19UCSC Ensembl
chr16:81500585..81500633hg18UCSC Ensembl
Innerchr16:81500608..81500608hg18UCSC Ensembl
Outerchr16:81500560..81500656hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38261
hg19261
hg18261
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3443683
Supporting Variants
SamplesNA11992
Known GenesCDH13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8970895
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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