A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13254110



Internal ID3255926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91203715..91208218hg38UCSC Ensembl
Innerchr8:91203765..91208168hg38UCSC Ensembl
Outerchr8:91203629..91208304hg38UCSC Ensembl
chr8:92215943..92220446hg19UCSC Ensembl
Innerchr8:92215993..92220396hg19UCSC Ensembl
Outerchr8:92215857..92220532hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg384504
hg194504
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618017
Supporting Variants
SamplesHG02239
Known GenesLRRC69, MIR4661
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13254110
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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