A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586973



Internal ID6974400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:101513515..101521361hg38UCSC Ensembl
Innerchr1:101513515..101521361hg38UCSC Ensembl
Outerchr1:101513015..101521861hg38UCSC Ensembl
chr1:101979071..101986917hg19UCSC Ensembl
Innerchr1:101979071..101986917hg19UCSC Ensembl
Outerchr1:101978571..101987417hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg387847
hg197847
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10034346, essv10034345, essv10034344, essv10034343, essv10034342, essv10034341, essv10034347
SamplesHG02481, NA18507, HG02012, HG01459, NA19189, HG02807, HG03265
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586973
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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