A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7830421



Internal ID14705936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170774319..170774320hg38UCSC Ensembl
Innerchr5:170774302..170774337hg38UCSC Ensembl
Outerchr5:170774301..170774338hg38UCSC Ensembl
chr5:170201323..170201324hg19UCSC Ensembl
Innerchr5:170201306..170201341hg19UCSC Ensembl
Outerchr5:170201305..170201342hg19UCSC Ensembl
chr5:170133901..170133902hg18UCSC Ensembl
Innerchr5:170133919..170133884hg18UCSC Ensembl
Outerchr5:170133883..170133920hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38294
hg19294
hg18294
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304835
Supporting Variants
SamplesNA18969
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7830421
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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