A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641614



Internal ID6681699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4081338..4084582hg38UCSC Ensembl
Innerchr18:4081344..4084577hg38UCSC Ensembl
Outerchr18:4081333..4084588hg38UCSC Ensembl
chr18:4081338..4084582hg19UCSC Ensembl
Innerchr18:4081344..4084577hg19UCSC Ensembl
Outerchr18:4081333..4084588hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg383245
hg193245
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15780339, essv15780340
SamplesHG03740, HG03986
Known GenesDLGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641614
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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