A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642445



Internal ID6682526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46897707..46901897hg38UCSC Ensembl
Innerchr18:46897732..46901873hg38UCSC Ensembl
Outerchr18:46897683..46901922hg38UCSC Ensembl
chr18:44477670..44481860hg19UCSC Ensembl
Innerchr18:44477695..44481836hg19UCSC Ensembl
Outerchr18:44477646..44481885hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg384191
hg194191
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15858033, essv15858032
SamplesHG03086, NA19917
Known GenesPIAS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642445
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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