A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3429524



Internal ID15276480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70702703..70702712hg38UCSC Ensembl
Innerchr2:70702707..70702708hg38UCSC Ensembl
Outerchr2:70702698..70702717hg38UCSC Ensembl
chr2:70929835..70929844hg19UCSC Ensembl
Innerchr2:70929839..70929840hg19UCSC Ensembl
Outerchr2:70929830..70929849hg19UCSC Ensembl
chr2:70783343..70783352hg18UCSC Ensembl
Innerchr2:70783348..70783347hg18UCSC Ensembl
Outerchr2:70783338..70783357hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863918
SamplesNA12005
Known GenesADD2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3429524
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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