A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13226502



Internal ID6304468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:74268053..74269067hg38UCSC Ensembl
Innerchr8:74268053..74269067hg38UCSC Ensembl
Outerchr8:74267855..74269211hg38UCSC Ensembl
chr8:75180288..75181302hg19UCSC Ensembl
Innerchr8:75180288..75181302hg19UCSC Ensembl
Outerchr8:75180090..75181446hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg381015
hg191015
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617653
Supporting Variants
SamplesNA19908
Known GenesJPH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13226502
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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