A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15781416



Internal ID5783232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4395845..4397619hg38UCSC Ensembl
Innerchr18:4395850..4397614hg38UCSC Ensembl
Outerchr18:4395840..4397624hg38UCSC Ensembl
chr18:4395845..4397619hg19UCSC Ensembl
Innerchr18:4395850..4397614hg19UCSC Ensembl
Outerchr18:4395840..4397624hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381775
hg191775
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641625
Supporting Variants
SamplesHG02861
Known GenesDLGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15781416
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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