A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688144



Internal ID15078756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:80655416..80659114hg38UCSC Ensembl
Innerchr10:80656416..80658114hg38UCSC Ensembl
Outerchr10:80654416..80660114hg38UCSC Ensembl
chr10:82415172..82418870hg19UCSC Ensembl
Innerchr10:82416172..82417870hg19UCSC Ensembl
Outerchr10:82414172..82419870hg19UCSC Ensembl
chr10:82405152..82408850hg18UCSC Ensembl
Innerchr10:82406152..82407850hg18UCSC Ensembl
Outerchr10:82404152..82409850hg18UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg383699
hg193699
hg183699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3450740
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688144
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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