A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652444



Internal ID15103696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:78682673..78683558hg38UCSC Ensembl
Innerchr9:78682673..78683558hg38UCSC Ensembl
Outerchr9:78682243..78683742hg38UCSC Ensembl
chr9:81297589..81298474hg19UCSC Ensembl
Innerchr9:81297589..81298474hg19UCSC Ensembl
Outerchr9:81297159..81298658hg19UCSC Ensembl
chr9:80487409..80488294hg18UCSC Ensembl
Innerchr9:80487409..80488294hg18UCSC Ensembl
Outerchr9:80486979..80488478hg18UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg38886
hg19886
hg18886
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3429506
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652444
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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