A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642125



Internal ID6682206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31388805..31392646hg38UCSC Ensembl
Innerchr18:31388805..31392646hg38UCSC Ensembl
Outerchr18:31388612..31392860hg38UCSC Ensembl
chr18:28968768..28972609hg19UCSC Ensembl
Innerchr18:28968768..28972609hg19UCSC Ensembl
Outerchr18:28968575..28972823hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg383842
hg193842
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15836668, essv15836669
SamplesHG02494, HG02072
Known GenesDSG4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642125
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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