A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642327



Internal ID7029097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41430279..41432236hg38UCSC Ensembl
Innerchr18:41430289..41432227hg38UCSC Ensembl
Outerchr18:41430270..41432246hg38UCSC Ensembl
chr18:39010243..39012200hg19UCSC Ensembl
Innerchr18:39010253..39012191hg19UCSC Ensembl
Outerchr18:39010234..39012210hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg381958
hg191958
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15854663, essv15854662, essv15854661
SamplesNA19006, HG00475, HG00584
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642327
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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