A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7838470



Internal ID13698485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73037318..73037319hg38UCSC Ensembl
Innerchr5:73037292..73037345hg38UCSC Ensembl
Outerchr5:73037291..73037346hg38UCSC Ensembl
chr5:72333145..72333146hg19UCSC Ensembl
Innerchr5:72333119..72333172hg19UCSC Ensembl
Outerchr5:72333118..72333173hg19UCSC Ensembl
chr5:72368901..72368902hg18UCSC Ensembl
Innerchr5:72368928..72368875hg18UCSC Ensembl
Outerchr5:72368874..72368929hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38260
hg19260
hg18260
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310324
Supporting Variants
SamplesNA12891
Known GenesFCHO2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7838470
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