A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8945595



Internal ID15123652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:97362669..97362717hg38UCSC Ensembl
Innerchr9:97362680..97362704hg38UCSC Ensembl
Outerchr9:97362632..97362754hg38UCSC Ensembl
chr9:100124951..100124999hg19UCSC Ensembl
Innerchr9:100124962..100124986hg19UCSC Ensembl
Outerchr9:100124914..100125036hg19UCSC Ensembl
chr9:99164772..99164820hg18UCSC Ensembl
Innerchr9:99164807..99164783hg18UCSC Ensembl
Outerchr9:99164735..99164857hg18UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg38265
hg19265
hg18265
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3327906
Supporting Variants
SamplesNA19257
Known GenesCCDC180, LOC100499484-C9ORF174
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8945595
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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