A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589103



Internal ID6629394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230913443..230914486hg38UCSC Ensembl
Innerchr1:230913486..230914443hg38UCSC Ensembl
Outerchr1:230913400..230914529hg38UCSC Ensembl
chr1:231049189..231050232hg19UCSC Ensembl
Innerchr1:231049232..231050189hg19UCSC Ensembl
Outerchr1:231049146..231050275hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381044
hg191044
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10317563, essv10317565, essv10317567, essv10317564, essv10317566, essv10317562
SamplesHG04003, HG03887, HG03792, NA20864, HG03990, HG03018
Known GenesTTC13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589103
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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