A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13192402



Internal ID4452578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47733497..47734681hg38UCSC Ensembl
Innerchr8:47733497..47734681hg38UCSC Ensembl
Outerchr8:47733188..47735011hg38UCSC Ensembl
chr8:48646059..48647243hg19UCSC Ensembl
Innerchr8:48646059..48647243hg19UCSC Ensembl
Outerchr8:48645750..48647573hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg381185
hg191185
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617102
Supporting Variants
SamplesHG03960
Known GenesSPIDR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13192402
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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