A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15842105



Internal ID5843921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36016575..36019102hg38UCSC Ensembl
Innerchr18:36016725..36018952hg38UCSC Ensembl
Outerchr18:36016425..36019252hg38UCSC Ensembl
chr18:33596538..33599065hg19UCSC Ensembl
Innerchr18:33596688..33598915hg19UCSC Ensembl
Outerchr18:33596388..33599215hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg382528
hg192528
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642214
Supporting Variants
SamplesHG01847
Known GenesRPRD1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15842105
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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