A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9604813



Internal ID13224891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148826648..148826667hg38UCSC Ensembl
Innerchr2:148826644..148826671hg38UCSC Ensembl
Outerchr2:148826625..148826690hg38UCSC Ensembl
chr2:149584217..149584236hg19UCSC Ensembl
Innerchr2:149584213..149584240hg19UCSC Ensembl
Outerchr2:149584194..149584259hg19UCSC Ensembl
chr2:149300687..149300706hg18UCSC Ensembl
Innerchr2:149300710..149300683hg18UCSC Ensembl
Outerchr2:149300664..149300729hg18UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3414872
Supporting Variants
SamplesNA11931
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9604813
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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