A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641619



Internal ID6681704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4258220..4258836hg38UCSC Ensembl
Innerchr18:4258220..4258836hg38UCSC Ensembl
Outerchr18:4257984..4259075hg38UCSC Ensembl
chr18:4258220..4258836hg19UCSC Ensembl
Innerchr18:4258220..4258836hg19UCSC Ensembl
Outerchr18:4257984..4259075hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38617
hg19617
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15780432, essv15780430, essv15780433, essv15780429, essv15780434, essv15780431
SamplesNA19443, NA20287, HG03268, NA19475, HG03410, HG02343
Known GenesDLGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641619
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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