A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642166



Internal ID7028936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:33147343..33151808hg38UCSC Ensembl
Innerchr18:33147343..33151808hg38UCSC Ensembl
Outerchr18:33146843..33152308hg38UCSC Ensembl
chr18:30727307..30731772hg19UCSC Ensembl
Innerchr18:30727307..30731772hg19UCSC Ensembl
Outerchr18:30726807..30732272hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg384466
hg194466
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15838794, essv15838793, essv15838791, essv15838787, essv15838790, essv15838788, essv15838789, essv15838792
SamplesNA19057, NA18988, NA18874, NA11932, NA19075, NA19434, NA18984, NA19004
Known GenesCCDC178
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642166
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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