A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302786



Internal ID15149734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173735905..173736046hg38UCSC Ensembl
Innerchr5:173735975..173735975hg38UCSC Ensembl
Outerchr5:173735805..173736146hg38UCSC Ensembl
chr5:173162908..173163049hg19UCSC Ensembl
Innerchr5:173162978..173162978hg19UCSC Ensembl
Outerchr5:173162808..173163149hg19UCSC Ensembl
chr5:173095514..173095655hg18UCSC Ensembl
Innerchr5:173095584..173095584hg18UCSC Ensembl
Outerchr5:173095414..173095755hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38142
hg19142
hg18142
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7737685, essv7734540, essv7734739, essv7733134, essv7738997, essv7736653, essv7736262, essv7738856, essv7735477, essv7737032, essv7735850, essv7735883, essv7731736, essv7736830, essv7731856, essv7735000, essv7732860, essv7738199, essv7736735, essv7739136, essv7738356
SamplesNA11995, NA12891, NA18582, NA18949, NA12828, NA11993, NA18951, NA18605, NA12878, NA18956, NA18948, NA11894, NA12892, NA18532, NA12144, NA11881, NA18952, NA18943, NA07037, NA12776, NA18965
Known GenesLOC101928136
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302786
Frequency
Sample Size185
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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