A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13254106



Internal ID3255922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91174627..91176814hg38UCSC Ensembl
Innerchr8:91174634..91176808hg38UCSC Ensembl
Outerchr8:91174621..91176821hg38UCSC Ensembl
chr8:92186855..92189042hg19UCSC Ensembl
Innerchr8:92186862..92189036hg19UCSC Ensembl
Outerchr8:92186849..92189049hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg382188
hg192188
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618015
Supporting Variants
SamplesHG02807
Known GenesLRRC69
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13254106
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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