A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15934052



Internal ID5935868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:73836494..74241222hg38UCSC Ensembl
Innerchr18:73836644..74241072hg38UCSC Ensembl
Outerchr18:73836344..74241372hg38UCSC Ensembl
chr18:71503729..71908457hg19UCSC Ensembl
Innerchr18:71503879..71908307hg19UCSC Ensembl
Outerchr18:71503579..71908607hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38404729
hg19404729
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643105
Supporting Variants
SamplesHG03061
Known GenesFBXO15, TIMM21
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15934052
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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