A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618126



Internal ID6658321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:96738560..96751173hg38UCSC Ensembl
Innerchr8:96738560..96751173hg38UCSC Ensembl
Outerchr8:96738060..96751673hg38UCSC Ensembl
chr8:97750788..97763401hg19UCSC Ensembl
Innerchr8:97750788..97763401hg19UCSC Ensembl
Outerchr8:97750288..97763901hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3812614
hg1912614
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13266859, essv13266858
SamplesNA20506, NA20803
Known GenesCPQ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618126
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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