A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643023



Internal ID7029792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:71565479..71567253hg38UCSC Ensembl
Innerchr18:71565479..71567253hg38UCSC Ensembl
Outerchr18:71565142..71567549hg38UCSC Ensembl
chr18:69232715..69234489hg19UCSC Ensembl
Innerchr18:69232715..69234489hg19UCSC Ensembl
Outerchr18:69232378..69234785hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg381775
hg191775
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15932160, essv15932159
SamplesHG02075, NA19085
Known GenesLOC100505776
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643023
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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