A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643020



Internal ID7029789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:71497511..71782573hg38UCSC Ensembl
Innerchr18:71497542..71782543hg38UCSC Ensembl
Outerchr18:71497481..71782604hg38UCSC Ensembl
chr18:69164747..69449809hg19UCSC Ensembl
Innerchr18:69164778..69449779hg19UCSC Ensembl
Outerchr18:69164717..69449840hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38285063
hg19285063
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15932142, essv15932143, essv15932144
SamplesNA06984, HG03061, HG00329
Known GenesLOC100505776
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643020
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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