A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586059



Internal ID6626373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52951456..52954169hg38UCSC Ensembl
Innerchr1:52951513..52954113hg38UCSC Ensembl
Outerchr1:52951400..52954226hg38UCSC Ensembl
chr1:53417128..53419841hg19UCSC Ensembl
Innerchr1:53417185..53419785hg19UCSC Ensembl
Outerchr1:53417072..53419898hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382714
hg192714
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9929510, essv9929508, essv9929509, essv9929507
SamplesNA19072, HG01174, NA19684, NA19452
Known GenesSCP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586059
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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