A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642481



Internal ID7029251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48785486..48789389hg38UCSC Ensembl
Innerchr18:48785494..48789381hg38UCSC Ensembl
Outerchr18:48785478..48789397hg38UCSC Ensembl
chr18:46311857..46315760hg19UCSC Ensembl
Innerchr18:46311865..46315752hg19UCSC Ensembl
Outerchr18:46311849..46315768hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg383904
hg193904
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15862319, essv15862317, essv15862314, essv15862315, essv15862316, essv15862318
SamplesHG02536, NA18908, NA12718, HG03136, HG03108, HG01886
Known GenesCTIF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642481
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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