A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643316



Internal ID6683396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79720366..79741940hg38UCSC Ensembl
Innerchr18:79720366..79741940hg38UCSC Ensembl
Outerchr18:79719866..79742440hg38UCSC Ensembl
chr18:77480366..77501940hg19UCSC Ensembl
Innerchr18:77480366..77501940hg19UCSC Ensembl
Outerchr18:77479866..77502440hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3821575
hg1921575
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15958589, essv15958591, essv15958592, essv15958590, essv15958588
SamplesHG02661, HG00266, HG00629, NA06984, HG03061
Known GenesCTDP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643316
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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