A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9920654



Internal ID6545947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42299692..42302910hg38UCSC Ensembl
Innerchr1:42299742..42302860hg38UCSC Ensembl
Outerchr1:42299564..42303038hg38UCSC Ensembl
chr1:42765363..42768581hg19UCSC Ensembl
Innerchr1:42765413..42768531hg19UCSC Ensembl
Outerchr1:42765235..42768709hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg383219
hg193219
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585842
Supporting Variants
SamplesHG01142
Known GenesFOXJ3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9920654
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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