A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7841935



Internal ID14736933
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 StatusS
Merged Variantsesv3310125
Supporting Variants
SamplesNA19240
Known GenesSH3PXD2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7841935
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer