A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3357537



Internal ID14857799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172989356..172989378hg38UCSC Ensembl
Innerchr2:172989360..172989372hg38UCSC Ensembl
Outerchr2:172989338..172989394hg38UCSC Ensembl
chr2:173854084..173854106hg19UCSC Ensembl
Innerchr2:173854088..173854100hg19UCSC Ensembl
Outerchr2:173854066..173854122hg19UCSC Ensembl
chr2:173562330..173562352hg18UCSC Ensembl
Innerchr2:173562346..173562334hg18UCSC Ensembl
Outerchr2:173562312..173562368hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38772
hg19772
hg18772
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8909453, essv8909454, essv8909452, essv8909451
SamplesNA11995, NA10851, NA12750, NA07037
Known GenesRAPGEF4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3357537
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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