A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586031



Internal ID6973550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51248392..51254652hg38UCSC Ensembl
Innerchr1:51248425..51254619hg38UCSC Ensembl
Outerchr1:51248359..51254685hg38UCSC Ensembl
chr1:51714064..51720324hg19UCSC Ensembl
Innerchr1:51714097..51720291hg19UCSC Ensembl
Outerchr1:51714031..51720357hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg386261
hg196261
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9929175, essv9929180, essv9929174, essv9929178, essv9929177, essv9929179, essv9929173, essv9929176
SamplesHG01173, HG01070, HG01177, HG01058, HG01936, HG01494, HG02238, HG01556
Known GenesRNF11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586031
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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