A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13254108



Internal ID3255924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91174869..91178530hg38UCSC Ensembl
Innerchr8:91174869..91178530hg38UCSC Ensembl
Outerchr8:91174706..91178709hg38UCSC Ensembl
chr8:92187097..92190758hg19UCSC Ensembl
Innerchr8:92187097..92190758hg19UCSC Ensembl
Outerchr8:92186934..92190937hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg383662
hg193662
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618016
Supporting Variants
SamplesHG02807
Known GenesLRRC69
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13254108
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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