A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616723



Internal ID6656919
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13150576, essv13150575
SamplesNA12489, NA19185
Known GenesPTK2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616723
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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