A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642652



Internal ID7029421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58808344..58809147hg38UCSC Ensembl
Innerchr18:58808372..58809120hg38UCSC Ensembl
Outerchr18:58808317..58809175hg38UCSC Ensembl
chr18:56475576..56476379hg19UCSC Ensembl
Innerchr18:56475604..56476352hg19UCSC Ensembl
Outerchr18:56475549..56476407hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38804
hg19804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15894277, essv15894268, essv15894276, essv15894263, essv15894274, essv15894279, essv15894272, essv15894267, essv15894264, essv15894270, essv15894266, essv15894275, essv15894265, essv15894278, essv15894273, essv15894269, essv15894271
SamplesHG03057, NA18881, HG03478, HG02325, NA19038, NA19137, NA19172, HG02571, NA19236, HG03457, HG03382, HG02309, HG02594, HG03433, HG02971, HG03066, HG02284
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642652
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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