A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3341379



Internal ID15188365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16391676..16391689hg38UCSC Ensembl
Innerchr5:16391668..16391697hg38UCSC Ensembl
Outerchr5:16391655..16391710hg38UCSC Ensembl
chr5:16391785..16391798hg19UCSC Ensembl
Innerchr5:16391777..16391806hg19UCSC Ensembl
Outerchr5:16391764..16391819hg19UCSC Ensembl
chr5:16444785..16444798hg18UCSC Ensembl
Innerchr5:16444806..16444777hg18UCSC Ensembl
Outerchr5:16444764..16444819hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38277
hg19277
hg18277
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8923438, essv8923456, essv8923454, essv8923440, essv8923453, essv8923441, essv8923444, essv8923437, essv8923451, essv8923452, essv8923442, essv8923443, essv8923449, essv8923446, essv8923455, essv8923439, essv8923450, essv8923457, essv8923445
SamplesNA18502, NA11995, NA18508, NA12414, NA11931, NA18504, NA18870, NA18510, NA18519, NA18499, NA18856, NA19225, NA18523, NA18858, NA11881, NA19108, NA18501, NA18511, NA18522
Known GenesLOC101929505
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3341379
Frequency
Sample Size185
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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