A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13237274



Internal ID3239090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78666290..78675254hg38UCSC Ensembl
Innerchr8:78666316..78675228hg38UCSC Ensembl
Outerchr8:78666264..78675280hg38UCSC Ensembl
chr8:79578525..79587489hg19UCSC Ensembl
Innerchr8:79578551..79587463hg19UCSC Ensembl
Outerchr8:79578499..79587515hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg388965
hg198965
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617738
Supporting Variants
SamplesHG00383
Known GenesZC2HC1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13237274
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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