A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3379464



Internal ID14879736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172347607..172347619hg38UCSC Ensembl
Innerchr5:172347598..172347628hg38UCSC Ensembl
Outerchr5:172347586..172347640hg38UCSC Ensembl
chr5:171774611..171774623hg19UCSC Ensembl
Innerchr5:171774602..171774632hg19UCSC Ensembl
Outerchr5:171774590..171774644hg19UCSC Ensembl
chr5:171707216..171707228hg18UCSC Ensembl
Innerchr5:171707237..171707207hg18UCSC Ensembl
Outerchr5:171707195..171707249hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675870, essv8675869
SamplesNA19239, NA19240
Known GenesSH3PXD2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3379464
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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