A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3340657



Internal ID14840927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54992410..54992429hg38UCSC Ensembl
Innerchr2:54992406..54992433hg38UCSC Ensembl
Outerchr2:54992387..54992452hg38UCSC Ensembl
chr2:55219546..55219565hg19UCSC Ensembl
Innerchr2:55219542..55219569hg19UCSC Ensembl
Outerchr2:55219523..55219588hg19UCSC Ensembl
chr2:55073050..55073069hg18UCSC Ensembl
Innerchr2:55073073..55073046hg18UCSC Ensembl
Outerchr2:55073027..55073092hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9601946
SamplesNA11894
Known GenesRTN4
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3340657
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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