A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13222006



Internal ID3577006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:71462272..71467399hg38UCSC Ensembl
Innerchr8:71462299..71467373hg38UCSC Ensembl
Outerchr8:71462246..71467426hg38UCSC Ensembl
chr8:72374507..72379634hg19UCSC Ensembl
Innerchr8:72374534..72379608hg19UCSC Ensembl
Outerchr8:72374481..72379661hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg385128
hg195128
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617591
Supporting Variants
SamplesHG03163
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13222006
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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