A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10672878



Internal ID5096183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130282861..130401532hg38UCSC Ensembl
chr2:131040434..131159105hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38118672
hg19118672
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592451
Supporting Variants
SamplesNA18550
Known GenesCCDC115, IMP4, PTPN18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10672878
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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