A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15780452



Internal ID5782269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4306254..4314511hg38UCSC Ensembl
Innerchr18:4306254..4314511hg38UCSC Ensembl
Outerchr18:4306196..4314624hg38UCSC Ensembl
chr18:4306254..4314511hg19UCSC Ensembl
Innerchr18:4306254..4314511hg19UCSC Ensembl
Outerchr18:4306196..4314624hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg388258
hg198258
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641622
Supporting Variants
SamplesHG00737
Known GenesDLGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15780452
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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