A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592451



Internal ID6979778
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10672879, essv10672877, essv10672872, essv10672873, essv10672876, essv10672874, essv10672878, essv10672875
SamplesNA18550, HG02374, HG01323, NA18976, HG01414, HG03694, HG00734, HG01874
Known GenesCCDC115, IMP4, PTPN18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592451
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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