A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588951



Internal ID6629242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222832785..222833270hg38UCSC Ensembl
Innerchr1:222832855..222833220hg38UCSC Ensembl
Outerchr1:222832709..222833346hg38UCSC Ensembl
chr1:223006127..223006612hg19UCSC Ensembl
Innerchr1:223006197..223006562hg19UCSC Ensembl
Outerchr1:223006051..223006688hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38486
hg19486
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10304247, essv10304242, essv10304238, essv10304249, essv10304246, essv10304245, essv10304244, essv10304239, essv10304251, essv10304248, essv10304252, essv10304243, essv10304241, essv10304237, essv10304253, essv10304240, essv10304250
SamplesHG02944, HG03163, NA19130, HG02562, NA18874, HG03114, NA19347, NA19320, HG01890, NA19256, HG02095, HG03313, HG02938, NA19713, HG03258, HG02013, NA19146
Known GenesDISP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588951
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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