A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696973



Internal ID13660992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62422555..62424753hg38UCSC Ensembl
Innerchr9:62423555..62423753hg38UCSC Ensembl
Outerchr9:62421555..62425753hg38UCSC Ensembl
chr9:46733856..46736054hg19UCSC Ensembl
Innerchr9:46734856..46735054hg19UCSC Ensembl
Outerchr9:46732856..46737054hg19UCSC Ensembl
chr9:46573852..46576050hg18UCSC Ensembl
Innerchr9:46574852..46575050hg18UCSC Ensembl
Outerchr9:46572852..46577050hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3434267
Supporting Variants
SamplesNA12878
Known GenesKGFLP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696973
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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