A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643327



Internal ID6683407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79810580..79972513hg38UCSC Ensembl
Innerchr18:79810580..79972513hg38UCSC Ensembl
Outerchr18:79810080..79973013hg38UCSC Ensembl
chr18:77570580..77732513hg19UCSC Ensembl
Innerchr18:77570580..77732513hg19UCSC Ensembl
Outerchr18:77570080..77733013hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38161934
hg19161934
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15960236, essv15960237, essv15960238
SamplesHG02661, NA06984, HG03061
Known GenesHSBP1L1, KCNG2, PQLC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643327
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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