A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678589



Internal ID14758942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219330640..219330659hg38UCSC Ensembl
Innerchr2:219330636..219330663hg38UCSC Ensembl
Outerchr2:219330617..219330682hg38UCSC Ensembl
chr2:220195362..220195381hg19UCSC Ensembl
Innerchr2:220195358..220195385hg19UCSC Ensembl
Outerchr2:220195339..220195404hg19UCSC Ensembl
chr2:219903606..219903625hg18UCSC Ensembl
Innerchr2:219903629..219903602hg18UCSC Ensembl
Outerchr2:219903583..219903648hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3414630
Supporting Variants
SamplesNA19240
Known GenesRESP18
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678589
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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