A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3364261



Internal ID15211239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74176765..74176778hg38UCSC Ensembl
Innerchr2:74176741..74176802hg38UCSC Ensembl
Outerchr2:74176728..74176815hg38UCSC Ensembl
chr2:74403892..74403905hg19UCSC Ensembl
Innerchr2:74403868..74403929hg19UCSC Ensembl
Outerchr2:74403855..74403942hg19UCSC Ensembl
chr2:74257400..74257413hg18UCSC Ensembl
Innerchr2:74257437..74257376hg18UCSC Ensembl
Outerchr2:74257363..74257450hg18UCSC Ensembl
Cytoband2p13.1
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 Variantsessv7863921
SamplesNA12005
Known GenesMOB1A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3364261
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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