A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586738



Internal ID6974256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:88623180..88685035hg38UCSC Ensembl
Innerchr1:88623180..88685035hg38UCSC Ensembl
Outerchr1:88622680..88685535hg38UCSC Ensembl
chr1:89088863..89150718hg19UCSC Ensembl
Innerchr1:89088863..89150718hg19UCSC Ensembl
Outerchr1:89088363..89151218hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3861856
hg1961856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10009254
SamplesHG00107
Known GenesPKN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586738
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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