A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652112



Internal ID15101786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:38354850..38357340hg38UCSC Ensembl
chr20:36984152..36984731hg19UCSC Ensembl
Innerchr20:36984152..36984731hg19UCSC Ensembl
Outerchr20:36983250..36985994hg19UCSC Ensembl
chr20:36417566..36418145hg18UCSC Ensembl
Innerchr20:36417566..36418145hg18UCSC Ensembl
Outerchr20:36416664..36419408hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg382491
hg19580
hg18580
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3429648
Supporting Variants
SamplesNA19240
Known GenesLBP
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652112
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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