A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9605480



Internal ID13592927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172657420..172657439hg38UCSC Ensembl
Innerchr2:172657416..172657443hg38UCSC Ensembl
Outerchr2:172657397..172657462hg38UCSC Ensembl
chr2:173522148..173522167hg19UCSC Ensembl
Innerchr2:173522144..173522171hg19UCSC Ensembl
Outerchr2:173522125..173522190hg19UCSC Ensembl
chr2:173230394..173230413hg18UCSC Ensembl
Innerchr2:173230417..173230390hg18UCSC Ensembl
Outerchr2:173230371..173230436hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3418958
Supporting Variants
SamplesNA12812
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9605480
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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