A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15780451



Internal ID5782268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4279517..4297393hg38UCSC Ensembl
Innerchr18:4279517..4297393hg38UCSC Ensembl
Outerchr18:4279017..4297893hg38UCSC Ensembl
chr18:4279517..4297393hg19UCSC Ensembl
Innerchr18:4279517..4297393hg19UCSC Ensembl
Outerchr18:4279017..4297893hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3817877
hg1917877
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641621
Supporting Variants
SamplesNA12004
Known GenesDLGAP1, DLGAP1-AS5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15780451
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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