A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592382



Internal ID6632665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128274687..128280151hg38UCSC Ensembl
chr2:129032261..129037725hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg385465
hg195465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10664884, essv10664886, essv10664888, essv10664887, essv10664885
SamplesNA18630, HG00404, NA18618, NA19440, NA19448
Known GenesHS6ST1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592382
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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