A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13204349



Internal ID3140498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56037333..56045098hg38UCSC Ensembl
Innerchr8:56037383..56045048hg38UCSC Ensembl
Outerchr8:56037283..56045148hg38UCSC Ensembl
chr8:56949892..56957657hg19UCSC Ensembl
Innerchr8:56949942..56957607hg19UCSC Ensembl
Outerchr8:56949842..56957707hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg387766
hg197766
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617288
Supporting Variants
SamplesHG02769
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13204349
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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