A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586746



Internal ID6974264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:88792197..88794139hg38UCSC Ensembl
Innerchr1:88792197..88794139hg38UCSC Ensembl
Outerchr1:88791965..88794449hg38UCSC Ensembl
chr1:89257880..89259822hg19UCSC Ensembl
Innerchr1:89257880..89259822hg19UCSC Ensembl
Outerchr1:89257648..89260132hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381943
hg191943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10009982, essv10009981, essv10009980
SamplesHG00740, HG01086, HG01770
Known GenesPKN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586746
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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