A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585866



Internal ID6626181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43335247..43338021hg38UCSC Ensembl
Innerchr1:43335283..43337986hg38UCSC Ensembl
Outerchr1:43335212..43338057hg38UCSC Ensembl
chr1:43800918..43803692hg19UCSC Ensembl
Innerchr1:43800954..43803657hg19UCSC Ensembl
Outerchr1:43800883..43803728hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg382775
hg192775
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9921730
SamplesHG02236
Known GenesMPL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585866
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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