A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302442



Internal ID14802703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:96896855..96896960hg38UCSC Ensembl
Innerchr5:96896907..96896907hg38UCSC Ensembl
Outerchr5:96896755..96897060hg38UCSC Ensembl
chr5:96232559..96232664hg19UCSC Ensembl
Innerchr5:96232611..96232611hg19UCSC Ensembl
Outerchr5:96232459..96232764hg19UCSC Ensembl
chr5:96258315..96258420hg18UCSC Ensembl
Innerchr5:96258367..96258367hg18UCSC Ensembl
Outerchr5:96258215..96258520hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38106
hg19106
hg18106
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3349e59
Supporting Variantsessv7731128, essv7731419, essv7731592, essv7730907
SamplesNA12891, NA19238, NA12878, NA19240
Known GenesERAP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302442
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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