A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593094



Internal ID6633374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158890992..159098547hg38UCSC Ensembl
chr2:159747504..159955059hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38207556
hg19207556
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10728784, essv10728786, essv10728785
SamplesNA19355, HG02485, HG01308
Known GenesTANC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593094
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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