A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394899



Internal ID15241863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25003935..25003938hg38UCSC Ensembl
Innerchr2:25003936..25003937hg38UCSC Ensembl
Outerchr2:25003933..25003940hg38UCSC Ensembl
chr2:25226804..25226807hg19UCSC Ensembl
Innerchr2:25226805..25226806hg19UCSC Ensembl
Outerchr2:25226802..25226809hg19UCSC Ensembl
chr2:25080308..25080311hg18UCSC Ensembl
Innerchr2:25080310..25080309hg18UCSC Ensembl
Outerchr2:25080306..25080313hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863878, essv7863879
SamplesNA19172, NA18522
Known GenesDNAJC27-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394899
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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