A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7733438



Internal ID14665994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:96896921..96896922hg38UCSC Ensembl
Outerchr5:96896770..96897073hg38UCSC Ensembl
Innerchr5:96232625..96232626hg19UCSC Ensembl
Outerchr5:96232474..96232777hg19UCSC Ensembl
Innerchr5:96258382..96258381hg18UCSC Ensembl
Outerchr5:96258230..96258533hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38304
hg19304
hg18304
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302740
Supporting Variants
SamplesNA19238
Known GenesERAP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7733438
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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