A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643328



Internal ID6683408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80015300..80058949hg38UCSC Ensembl
Innerchr18:80015300..80058949hg38UCSC Ensembl
Outerchr18:80014800..80059449hg38UCSC Ensembl
chr18:77775300..77818949hg19UCSC Ensembl
Innerchr18:77775300..77818949hg19UCSC Ensembl
Outerchr18:77774800..77819449hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3843650
hg1943650
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15960240, essv15960239, essv15960241
SamplesHG02661, NA06984, HG03061
Known GenesRBFA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643328
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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