A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651869



Internal ID15100296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113424444..113425098hg38UCSC Ensembl
Innerchr13:113424444..113425098hg38UCSC Ensembl
Outerchr13:113424203..113425119hg38UCSC Ensembl
chr13:114078759..114079413hg19UCSC Ensembl
Innerchr13:114078759..114079413hg19UCSC Ensembl
Outerchr13:114078518..114079434hg19UCSC Ensembl
chr13:113126760..113127414hg18UCSC Ensembl
Innerchr13:113126760..113127414hg18UCSC Ensembl
Outerchr13:113126519..113127435hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38655
hg19655
hg18655
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3433428
Supporting Variants
SamplesNA19240
Known GenesADPRHL1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651869
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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