A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13150576



Internal ID3152392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27406444..27408873hg38UCSC Ensembl
Innerchr8:27406444..27408873hg38UCSC Ensembl
Outerchr8:27406393..27408921hg38UCSC Ensembl
chr8:27263961..27266390hg19UCSC Ensembl
Innerchr8:27263961..27266390hg19UCSC Ensembl
Outerchr8:27263910..27266438hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg382430
hg192430
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616723
Supporting Variants
SamplesNA19185
Known GenesPTK2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13150576
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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