A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310125



Internal ID14810390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172347604..172347605hg38UCSC Ensembl
Innerchr5:172347587..172347622hg38UCSC Ensembl
Outerchr5:172347586..172347623hg38UCSC Ensembl
chr5:171774608..171774609hg19UCSC Ensembl
Innerchr5:171774591..171774626hg19UCSC Ensembl
Outerchr5:171774590..171774627hg19UCSC Ensembl
chr5:171707213..171707214hg18UCSC Ensembl
Innerchr5:171707231..171707196hg18UCSC Ensembl
Outerchr5:171707195..171707232hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38304
hg19304
hg18304
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7841935, essv7842926
SamplesNA19239, NA19240
Known GenesSH3PXD2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310125
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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