A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13309020



Internal ID3310836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123180821..123192499hg38UCSC Ensembl
Innerchr8:123180841..123192479hg38UCSC Ensembl
Outerchr8:123180801..123192519hg38UCSC Ensembl
chr8:124193061..124204739hg19UCSC Ensembl
Innerchr8:124193081..124204719hg19UCSC Ensembl
Outerchr8:124193041..124204759hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3811679
hg1911679
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618663
Supporting Variants
SamplesHG02186
Known GenesFAM83A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13309020
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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