A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3413399



Internal ID14913672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:174096743..174098741hg38UCSC Ensembl
Innerchr5:174097741..174097743hg38UCSC Ensembl
Outerchr5:174095743..174099741hg38UCSC Ensembl
chr5:173523746..173525744hg19UCSC Ensembl
Innerchr5:173524744..173524746hg19UCSC Ensembl
Outerchr5:173522746..173526744hg19UCSC Ensembl
chr5:173456352..173458350hg18UCSC Ensembl
Innerchr5:173457352..173457350hg18UCSC Ensembl
Outerchr5:173455352..173459350hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694649
SamplesNA19240
Known GenesHMP19
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3413399
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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