A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10728786



Internal ID730602
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593094
Supporting Variants
SamplesNA19355
Known GenesTANC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10728786
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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