A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15838791



Internal ID5548406
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642166
Supporting Variants
SamplesNA19004
Known GenesCCDC178
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15838791
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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