A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694952



Internal ID13697616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76315171..76335469hg38UCSC Ensembl
Innerchr5:76316171..76334469hg38UCSC Ensembl
Outerchr5:76314171..76336469hg38UCSC Ensembl
chr5:75610996..75631294hg19UCSC Ensembl
Innerchr5:75611996..75630294hg19UCSC Ensembl
Outerchr5:75609996..75632294hg19UCSC Ensembl
chr5:75646752..75667050hg18UCSC Ensembl
Innerchr5:75647752..75666050hg18UCSC Ensembl
Outerchr5:75645752..75668050hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3820299
hg1920299
hg1820299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3353515
Supporting Variants
SamplesNA12891
Known GenesSV2C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694952
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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