A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697432



Internal ID15062177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:93614549..93615447hg38UCSC Ensembl
Innerchr9:93614548..93615448hg38UCSC Ensembl
Outerchr9:93613549..93616447hg38UCSC Ensembl
chr9:96376831..96377729hg19UCSC Ensembl
Innerchr9:96376830..96377730hg19UCSC Ensembl
Outerchr9:96375831..96378729hg19UCSC Ensembl
chr9:95416652..95417550hg18UCSC Ensembl
Innerchr9:95417551..95416651hg18UCSC Ensembl
Outerchr9:95415652..95418550hg18UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3440136
Supporting Variants
SamplesNA19239
Known GenesPHF2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697432
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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