A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641113



Internal ID6681198
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15730518, essv15730508, essv15730519, essv15730520, essv15730516, essv15730511, essv15730522, essv15730517, essv15730509, essv15730514, essv15730513, essv15730510, essv15730521, essv15730507, essv15730515, essv15730512
SamplesNA18917, HG03069, HG03385, HG02860, HG03212, NA18520, NA20342, HG02943, HG03363, HG03136, HG02979, HG01896, NA19712, HG02107, NA19711, HG01431
Known GenesFAM20A, PRKAR1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641113
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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