A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8677403



Internal ID15057516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:36670767..36670779hg38UCSC Ensembl
Innerchr9:36670758..36670785hg38UCSC Ensembl
Outerchr9:36670749..36670797hg38UCSC Ensembl
chr9:36670764..36670776hg19UCSC Ensembl
Innerchr9:36670755..36670782hg19UCSC Ensembl
Outerchr9:36670746..36670794hg19UCSC Ensembl
chr9:36660764..36660776hg18UCSC Ensembl
Innerchr9:36660782..36660755hg18UCSC Ensembl
Outerchr9:36660746..36660794hg18UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg38250
hg19250
hg18250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3408641
Supporting Variants
SamplesNA19239
Known GenesMELK
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8677403
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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