A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641739



Internal ID7028510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9284960..9286206hg38UCSC Ensembl
Innerchr18:9284960..9286206hg38UCSC Ensembl
Outerchr18:9284753..9286375hg38UCSC Ensembl
chr18:9284958..9286204hg19UCSC Ensembl
Innerchr18:9284958..9286204hg19UCSC Ensembl
Outerchr18:9284751..9286373hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg381247
hg191247
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15799937, essv15799935, essv15799939, essv15799934, essv15799936, essv15799933, essv15799938
SamplesHG02471, HG00731, HG00732, HG01707, HG00119, HG01468, NA20763
Known GenesANKRD12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641739
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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