A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690992



Internal ID14756676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67025874..67026872hg38UCSC Ensembl
Innerchr17:67025873..67026873hg38UCSC Ensembl
Outerchr17:67024874..67027872hg38UCSC Ensembl
chr17:65021990..65022988hg19UCSC Ensembl
Innerchr17:65021989..65022989hg19UCSC Ensembl
Outerchr17:65020990..65023988hg19UCSC Ensembl
chr17:62452452..62453450hg18UCSC Ensembl
Innerchr17:62453451..62452451hg18UCSC Ensembl
Outerchr17:62451452..62454450hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3333825
Supporting Variants
SamplesNA19240
Known GenesCACNG4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690992
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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