A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642638



Internal ID7029407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57813642..57820687hg38UCSC Ensembl
Innerchr18:57813691..57820638hg38UCSC Ensembl
Outerchr18:57813593..57820736hg38UCSC Ensembl
chr18:55480874..55487919hg19UCSC Ensembl
Innerchr18:55480923..55487870hg19UCSC Ensembl
Outerchr18:55480825..55487968hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg387046
hg197046
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15893637
SamplesNA20778
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642638
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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