A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3407024



Internal ID14907300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224918091..224919889hg38UCSC Ensembl
Innerchr2:224918889..224919091hg38UCSC Ensembl
Outerchr2:224917091..224920889hg38UCSC Ensembl
chr2:225782808..225784606hg19UCSC Ensembl
Innerchr2:225783606..225783808hg19UCSC Ensembl
Outerchr2:225781808..225785606hg19UCSC Ensembl
chr2:225491052..225492850hg18UCSC Ensembl
Innerchr2:225492052..225491850hg18UCSC Ensembl
Outerchr2:225490052..225493850hg18UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2351e59
Supporting Variantsessv8693492
SamplesNA19238
Known GenesDOCK10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3407024
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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