A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9604757



Internal ID13259929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148024554..148024573hg38UCSC Ensembl
Innerchr2:148024550..148024577hg38UCSC Ensembl
Outerchr2:148024531..148024596hg38UCSC Ensembl
chr2:148782123..148782142hg19UCSC Ensembl
Innerchr2:148782119..148782146hg19UCSC Ensembl
Outerchr2:148782100..148782165hg19UCSC Ensembl
chr2:148498593..148498612hg18UCSC Ensembl
Innerchr2:148498616..148498589hg18UCSC Ensembl
Outerchr2:148498570..148498635hg18UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3336236
Supporting Variants
SamplesNA12815
Known GenesMBD5
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9604757
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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