A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13317964



Internal ID3100445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:126433629..126434048hg38UCSC Ensembl
Innerchr8:126433679..126433998hg38UCSC Ensembl
Outerchr8:126433561..126434116hg38UCSC Ensembl
chr8:127445874..127446293hg19UCSC Ensembl
Innerchr8:127445924..127446243hg19UCSC Ensembl
Outerchr8:127445806..127446361hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38420
hg19420
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618746
Supporting Variants
SamplesHG02724
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13317964
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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