A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9604746



Internal ID13593649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147957290..147957309hg38UCSC Ensembl
Innerchr2:147957286..147957313hg38UCSC Ensembl
Outerchr2:147957267..147957332hg38UCSC Ensembl
chr2:148714859..148714878hg19UCSC Ensembl
Innerchr2:148714855..148714882hg19UCSC Ensembl
Outerchr2:148714836..148714901hg19UCSC Ensembl
chr2:148431329..148431348hg18UCSC Ensembl
Innerchr2:148431352..148431325hg18UCSC Ensembl
Outerchr2:148431306..148431371hg18UCSC 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 Variantsesv3446864
Supporting Variants
SamplesNA12812
Known GenesORC4
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9604746
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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