A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588130



Internal ID6628430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184914796..184917300hg38UCSC Ensembl
Innerchr1:184914847..184917249hg38UCSC Ensembl
Outerchr1:184914745..184917351hg38UCSC Ensembl
chr1:184883929..184886433hg19UCSC Ensembl
Innerchr1:184883980..184886382hg19UCSC Ensembl
Outerchr1:184883878..184886484hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg382505
hg192505
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10211055
SamplesHG03771
Known GenesFAM129A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588130
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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