A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642217



Internal ID6682298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36211347..36211860hg38UCSC Ensembl
Innerchr18:36211347..36211860hg38UCSC Ensembl
Outerchr18:36211010..36212142hg38UCSC Ensembl
chr18:33791310..33791823hg19UCSC Ensembl
Innerchr18:33791310..33791823hg19UCSC Ensembl
Outerchr18:33790973..33792105hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38514
hg19514
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15842413, essv15842411, essv15842420, essv15842410, essv15842417, essv15842418, essv15842419, essv15842416, essv15842415, essv15842414, essv15842412
SamplesNA20351, NA18933, NA18874, NA20299, HG02952, NA19210, NA18508, HG03300, NA19107, HG03862, NA18510
Known GenesMOCOS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642217
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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