A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641849



Internal ID7028620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13103765..13104504hg38UCSC Ensembl
Innerchr18:13103770..13104500hg38UCSC Ensembl
Outerchr18:13103761..13104509hg38UCSC Ensembl
chr18:13103764..13104503hg19UCSC Ensembl
Innerchr18:13103769..13104499hg19UCSC Ensembl
Outerchr18:13103760..13104508hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38740
hg19740
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15811822
SamplesHG02657
Known GenesCEP192
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641849
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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