A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652425



Internal ID15103555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134729162..134729959hg38UCSC Ensembl
Innerchr9:134729162..134729959hg38UCSC Ensembl
Outerchr9:134729139..134729987hg38UCSC Ensembl
chr9:137621008..137621805hg19UCSC Ensembl
Innerchr9:137621008..137621805hg19UCSC Ensembl
Outerchr9:137620985..137621833hg19UCSC Ensembl
chr9:136760829..136761626hg18UCSC Ensembl
Innerchr9:136760829..136761626hg18UCSC Ensembl
Outerchr9:136760806..136761654hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38798
hg19798
hg18798
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3368487
Supporting Variants
SamplesNA19240
Known GenesCOL5A1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652425
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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