A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15780367



Internal ID5782183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4154498..4166139hg38UCSC Ensembl
Innerchr18:4154511..4166127hg38UCSC Ensembl
Outerchr18:4154486..4166152hg38UCSC Ensembl
chr18:4154498..4166139hg19UCSC Ensembl
Innerchr18:4154511..4166127hg19UCSC Ensembl
Outerchr18:4154486..4166152hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3811642
hg1911642
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641617
Supporting Variants
SamplesHG02953
Known GenesDLGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15780367
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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