A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587166



Internal ID6627473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110483809..110485832hg38UCSC Ensembl
Innerchr1:110483809..110485832hg38UCSC Ensembl
Outerchr1:110483524..110486035hg38UCSC Ensembl
chr1:111026431..111028454hg19UCSC Ensembl
Innerchr1:111026431..111028454hg19UCSC Ensembl
Outerchr1:111026146..111028657hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382024
hg192024
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10061236, essv10061234, essv10061235, essv10061237
SamplesHG02895, HG02756, HG02461, HG02839
Known GenesCYMP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587166
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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