A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8909452



Internal ID13182322
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 StatusS
Merged Variantsesv3357537
Supporting Variants
SamplesNA12750
Known GenesRAPGEF4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8909452
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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