A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697123



Internal ID13662481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:63315060..63343958hg38UCSC Ensembl
Innerchr9:63316060..63342958hg38UCSC Ensembl
Outerchr9:63314060..63344958hg38UCSC Ensembl
chr9:67270032..67298930hg19UCSC Ensembl
Innerchr9:67271032..67297930hg19UCSC Ensembl
Outerchr9:67269032..67299930hg19UCSC Ensembl
chr9:66959852..66988750hg18UCSC Ensembl
Innerchr9:66960852..66987750hg18UCSC Ensembl
Outerchr9:66958852..66989750hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3828899
hg1928899
hg1828899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3329481
Supporting Variants
SamplesNA12878
Known GenesAQP7P1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697123
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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