A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15943892



Internal ID5945708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:77032848..77365699hg38UCSC Ensembl
chr18:74744804..75077655hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38332852
hg19332852
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643201
Supporting Variants
SamplesNA06984
Known GenesGALR1, MBP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15943892
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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