A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586249



Internal ID6626562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63922376..63924077hg38UCSC Ensembl
Innerchr1:63922376..63924077hg38UCSC Ensembl
Outerchr1:63922124..63924396hg38UCSC Ensembl
chr1:64388047..64389748hg19UCSC Ensembl
Innerchr1:64388047..64389748hg19UCSC Ensembl
Outerchr1:64387795..64390067hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381702
hg191702
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9951201, essv9951196, essv9951184, essv9951197, essv9951186, essv9951194, essv9951199, essv9951185, essv9951204, essv9951203, essv9951190, essv9951191, essv9951195, essv9951202, essv9951198, essv9951188, essv9951187, essv9951193, essv9951189, essv9951192, essv9951200
SamplesHG01918, HG02272, HG02002, HG01443, HG02262, HG01947, HG02285, HG02105, HG01599, HG02301, HG02278, HG02003, HG01967, HG01942, HG01139, NA20314, NA19735, HG01272, HG01935, HG02348, HG01125
Known GenesROR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586249
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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