A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9601302



Internal ID13258432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45443705..45443724hg38UCSC Ensembl
Innerchr2:45443701..45443728hg38UCSC Ensembl
Outerchr2:45443682..45443747hg38UCSC Ensembl
chr2:45670844..45670863hg19UCSC Ensembl
Innerchr2:45670840..45670867hg19UCSC Ensembl
Outerchr2:45670821..45670886hg19UCSC Ensembl
chr2:45524348..45524367hg18UCSC Ensembl
Innerchr2:45524371..45524344hg18UCSC Ensembl
Outerchr2:45524325..45524390hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3420842
Supporting Variants
SamplesNA12814
Known GenesSRBD1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9601302
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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