A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13192573



Internal ID6956489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47989104..47998216hg38UCSC Ensembl
Innerchr8:47989104..47998216hg38UCSC Ensembl
Outerchr8:47988604..47998716hg38UCSC Ensembl
chr8:48901664..48910776hg19UCSC Ensembl
Innerchr8:48901664..48910776hg19UCSC Ensembl
Outerchr8:48901164..48911276hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg389113
hg199113
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617107
Supporting Variants
SamplesNA21135
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13192573
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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