A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590855



Internal ID6978183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55407110..55409052hg38UCSC Ensembl
Innerchr2:55407111..55409052hg38UCSC Ensembl
Outerchr2:55407110..55409053hg38UCSC Ensembl
chr2:55634246..55636188hg19UCSC Ensembl
Innerchr2:55634247..55636188hg19UCSC Ensembl
Outerchr2:55634246..55636189hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381943
hg191943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10512208, essv10512210, essv10512212, essv10512220, essv10512219, essv10512211, essv10512204, essv10512209, essv10512206, essv10512222, essv10512216, essv10512217, essv10512213, essv10512215, essv10512207, essv10512221, essv10512218, essv10512205, essv10512214
SamplesHG02496, HG02702, NA20512, HG03518, HG03485, HG02620, HG03246, HG01398, HG02461, HG03058, HG02623, NA19114, HG02722, NA19035, HG02772, NA20522, HG02839, NA19117, HG03538
Known GenesCCDC88A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590855
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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