A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3326187



Internal ID15173168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176896934..176896946hg38UCSC Ensembl
Innerchr5:176896930..176896948hg38UCSC Ensembl
Outerchr5:176896918..176896962hg38UCSC Ensembl
chr5:176323935..176323947hg19UCSC Ensembl
Innerchr5:176323931..176323949hg19UCSC Ensembl
Outerchr5:176323919..176323963hg19UCSC Ensembl
chr5:176256541..176256553hg18UCSC Ensembl
Innerchr5:176256555..176256537hg18UCSC Ensembl
Outerchr5:176256525..176256569hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38235
hg19235
hg18235
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8927572, essv8927573, essv8927570, essv8927568, essv8927574, essv8927567, essv8927571
SamplesNA18861, NA18489, NA19172, NA18907, NA18517, NA18501, NA19129
Known GenesHK3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3326187
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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