A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642408



Internal ID7029178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45500930..45504904hg38UCSC Ensembl
Innerchr18:45500945..45504889hg38UCSC Ensembl
Outerchr18:45500915..45504919hg38UCSC Ensembl
chr18:43080895..43084869hg19UCSC Ensembl
Innerchr18:43080910..43084854hg19UCSC Ensembl
Outerchr18:43080880..43084884hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg383975
hg193975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15857728
SamplesHG01982
Known GenesSLC14A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642408
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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