A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864478



Internal ID12970302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77638251..77638262hg38UCSC Ensembl
Innerchr5:77638253..77638260hg38UCSC Ensembl
Outerchr5:77638242..77638271hg38UCSC Ensembl
chr5:76934076..76934087hg19UCSC Ensembl
Innerchr5:76934078..76934085hg19UCSC Ensembl
Outerchr5:76934067..76934096hg19UCSC Ensembl
chr5:76969832..76969843hg18UCSC Ensembl
Innerchr5:76969841..76969834hg18UCSC Ensembl
Outerchr5:76969823..76969852hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3387490
Supporting Variants
SamplesNA12005
Known GenesOTP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864478
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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