A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731592



Internal ID14742313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:96896856..96896960hg38UCSC Ensembl
Innerchr5:96896907..96896908hg38UCSC Ensembl
Outerchr5:96896756..96897060hg38UCSC Ensembl
chr5:96232560..96232664hg19UCSC Ensembl
Innerchr5:96232611..96232612hg19UCSC Ensembl
Outerchr5:96232460..96232764hg19UCSC Ensembl
chr5:96258316..96258420hg18UCSC Ensembl
Innerchr5:96258368..96258367hg18UCSC Ensembl
Outerchr5:96258216..96258520hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38105
hg19105
hg18105
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302442
Supporting Variants
SamplesNA19240
Known GenesERAP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731592
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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