A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588581



Internal ID6628873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202332555..202341667hg38UCSC Ensembl
Innerchr1:202333055..202341167hg38UCSC Ensembl
Outerchr1:202331555..202342667hg38UCSC Ensembl
chr1:202301683..202310795hg19UCSC Ensembl
Innerchr1:202302183..202310295hg19UCSC Ensembl
Outerchr1:202300683..202311795hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg389113
hg199113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10265012, essv10265015, essv10265013, essv10265014
SamplesNA19092, NA20785, HG03127, HG04161
Known GenesUBE2T
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588581
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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