A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15900384



Internal ID4964663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:61518299..61521844hg38UCSC Ensembl
Innerchr18:61518299..61521844hg38UCSC Ensembl
Outerchr18:61517995..61522104hg38UCSC Ensembl
chr18:59185532..59189077hg19UCSC Ensembl
Innerchr18:59185532..59189077hg19UCSC Ensembl
Outerchr18:59185228..59189337hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg383546
hg193546
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642733
Supporting Variants
SamplesNA12843
Known GenesCDH20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15900384
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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