A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652299



Internal ID14756129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:65172052..65172575hg38UCSC Ensembl
Innerchr5:65172052..65172575hg38UCSC Ensembl
Outerchr5:65171261..65173465hg38UCSC Ensembl
chr5:64467879..64468402hg19UCSC Ensembl
Innerchr5:64467879..64468402hg19UCSC Ensembl
Outerchr5:64467088..64469292hg19UCSC Ensembl
chr5:64503635..64504158hg18UCSC Ensembl
Innerchr5:64503635..64504158hg18UCSC Ensembl
Outerchr5:64502844..64505048hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38524
hg19524
hg18524
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3431828
Supporting Variants
SamplesNA19240
Known GenesADAMTS6
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652299
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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