A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642683



Internal ID7029452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:60009733..60020689hg38UCSC Ensembl
Innerchr18:60009752..60020671hg38UCSC Ensembl
Outerchr18:60009715..60020708hg38UCSC Ensembl
chr18:57676965..57687921hg19UCSC Ensembl
Innerchr18:57676984..57687903hg19UCSC Ensembl
Outerchr18:57676947..57687940hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg3810957
hg1910957
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15897405, essv15897404, essv15897407, essv15897402, essv15897401, essv15897403, essv15897406
SamplesHG01802, HG02407, HG02374, HG02397, HG01029, HG01861, HG02079
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642683
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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