A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642729



Internal ID7029498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:61262453..61266906hg38UCSC Ensembl
Innerchr18:61262487..61266873hg38UCSC Ensembl
Outerchr18:61262420..61266940hg38UCSC Ensembl
chr18:58929686..58934139hg19UCSC Ensembl
Innerchr18:58929720..58934106hg19UCSC Ensembl
Outerchr18:58929653..58934173hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg384454
hg194454
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15900100, essv15900099
SamplesHG02086, NA18963
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642729
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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