A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652284



Internal ID15102718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:174742844..174744312hg38UCSC Ensembl
Innerchr5:174742844..174744312hg38UCSC Ensembl
Outerchr5:174742711..174744818hg38UCSC Ensembl
chr5:174169847..174171315hg19UCSC Ensembl
Innerchr5:174169847..174171315hg19UCSC Ensembl
Outerchr5:174169714..174171821hg19UCSC Ensembl
chr5:174102453..174103921hg18UCSC Ensembl
Innerchr5:174102453..174103921hg18UCSC Ensembl
Outerchr5:174102320..174104427hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381469
hg191469
hg181469
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3402985
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652284
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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