A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586250



Internal ID6626563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63980885..63982362hg38UCSC Ensembl
Innerchr1:63980906..63982341hg38UCSC Ensembl
Outerchr1:63980864..63982383hg38UCSC Ensembl
chr1:64446557..64448034hg19UCSC Ensembl
Innerchr1:64446578..64448013hg19UCSC Ensembl
Outerchr1:64446536..64448055hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381478
hg191478
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9951253, essv9951231, essv9951223, essv9951252, essv9951215, essv9951261, essv9951229, essv9951220, essv9951244, essv9951238, essv9951212, essv9951250, essv9951211, essv9951213, essv9951258, essv9951218, essv9951208, essv9951241, essv9951209, essv9951263, essv9951245, essv9951216, essv9951247, essv9951210, essv9951260, essv9951248, essv9951262, essv9951232, essv9951237, essv9951217, essv9951230, essv9951224, essv9951242, essv9951228, essv9951207, essv9951259, essv9951254, essv9951243, essv9951234, essv9951206, essv9951225, essv9951219, essv9951221, essv9951222, essv9951226, essv9951227, essv9951256, essv9951255, essv9951239, essv9951251, essv9951235, essv9951214, essv9951249, essv9951236, essv9951240, essv9951233, essv9951246, essv9951257, essv9951205
SamplesNA18745, HG00442, HG00536, HG02385, HG01031, HG01860, HG02375, HG01815, HG02122, HG02029, HG02050, HG02382, NA18597, HG02407, HG01840, NA18964, HG01813, NA18617, HG00705, NA18966, NA18640, HG03832, NA18539, HG02047, HG00149, NA18605, HG00443, HG01867, NA19091, HG02397, HG00584, NA18637, HG04235, NA18626, HG00404, HG00479, NA18555, HG02184, NA18963, HG00704, HG00410, HG02399, HG01812, HG01800, NA18941, HG00473, NA18943, HG02371, HG00672, NA18631, HG02079, HG02392, HG02182, NA18983, HG00595, HG02020, HG00628, HG04153, HG02406
Known GenesROR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586250
Frequency
Sample Size2504
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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