A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10664888



Internal ID666704
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592382
Supporting Variants
SamplesNA19448
Known GenesHS6ST1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10664888
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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