A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13309032



Internal ID1155817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123431135..123434424hg38UCSC Ensembl
Innerchr8:123431193..123434366hg38UCSC Ensembl
Outerchr8:123431077..123434482hg38UCSC Ensembl
chr8:124443375..124446664hg19UCSC Ensembl
Innerchr8:124443433..124446606hg19UCSC Ensembl
Outerchr8:124443317..124446722hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg383290
hg193290
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618668
Supporting Variants
SamplesHG01031
Known GenesWDYHV1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13309032
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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