A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696555



Internal ID15058370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134713985..134714983hg38UCSC Ensembl
Innerchr9:134713984..134714984hg38UCSC Ensembl
Outerchr9:134712985..134715983hg38UCSC Ensembl
chr9:137605831..137606829hg19UCSC Ensembl
Innerchr9:137605830..137606830hg19UCSC Ensembl
Outerchr9:137604831..137607829hg19UCSC Ensembl
chr9:136745652..136746650hg18UCSC Ensembl
Innerchr9:136746651..136745651hg18UCSC Ensembl
Outerchr9:136744652..136747650hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3411214
Supporting Variants
SamplesNA19239
Known GenesCOL5A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696555
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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