A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731724



Internal ID14138836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:68676338..68721089hg38UCSC Ensembl
Outerchr9:68676138..68721289hg38UCSC Ensembl
Innerchr9:71291254..71336005hg19UCSC Ensembl
Outerchr9:71291054..71336205hg19UCSC Ensembl
Innerchr9:70481074..70525825hg18UCSC Ensembl
Outerchr9:70480874..70526025hg18UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg3845152
hg1945152
hg1845152
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302888
Supporting Variants
SamplesNA18943
Known GenesPIP5K1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731724
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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