A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642214



Internal ID6682295
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15842105, essv15842104
SamplesHG01815, HG01847
Known GenesRPRD1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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