A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690488



Internal ID14753407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89137143..89137741hg38UCSC Ensembl
Innerchr16:89137142..89137742hg38UCSC Ensembl
Outerchr16:89136143..89138741hg38UCSC Ensembl
chr16:89203551..89204149hg19UCSC Ensembl
Innerchr16:89203550..89204150hg19UCSC Ensembl
Outerchr16:89202551..89205149hg19UCSC Ensembl
chr16:87731052..87731650hg18UCSC Ensembl
Innerchr16:87731651..87731051hg18UCSC Ensembl
Outerchr16:87730052..87732650hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38599
hg19599
hg18599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3444909
Supporting Variants
SamplesNA19240
Known GenesACSF3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690488
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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