A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15932143



Internal ID3425395
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643020
Supporting Variants
SamplesHG03061
Known GenesLOC100505776
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15932143
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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