A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15780479



Internal ID5782295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4330218..4335636hg38UCSC Ensembl
Innerchr18:4330218..4335636hg38UCSC Ensembl
Outerchr18:4329966..4335894hg38UCSC Ensembl
chr18:4330218..4335636hg19UCSC Ensembl
Innerchr18:4330218..4335636hg19UCSC Ensembl
Outerchr18:4329966..4335894hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg385419
hg195419
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641623
Supporting Variants
SamplesHG03209
Known GenesDLGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15780479
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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