A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7758759



Internal ID14884632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176896933..176896934hg38UCSC Ensembl
Innerchr5:176896906..176896961hg38UCSC Ensembl
Outerchr5:176896905..176896962hg38UCSC Ensembl
chr5:176323934..176323935hg19UCSC Ensembl
Innerchr5:176323907..176323962hg19UCSC Ensembl
Outerchr5:176323906..176323963hg19UCSC Ensembl
chr5:176256540..176256541hg18UCSC Ensembl
Innerchr5:176256568..176256513hg18UCSC Ensembl
Outerchr5:176256512..176256569hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38235
hg19235
hg18235
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306603
Supporting Variants
SamplesNA19129
Known GenesHK3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7758759
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