A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15730512



Internal ID5732328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68545928..68546635hg38UCSC Ensembl
Innerchr17:68545978..68546585hg38UCSC Ensembl
Outerchr17:68545847..68546716hg38UCSC Ensembl
chr17:66542069..66542776hg19UCSC Ensembl
Innerchr17:66542119..66542726hg19UCSC Ensembl
Outerchr17:66541988..66542857hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38708
hg19708
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641113
Supporting Variants
SamplesHG02979
Known GenesFAM20A, PRKAR1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15730512
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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