A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7749525



Internal ID14463100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231118124..231118125hg38UCSC Ensembl
Innerchr2:231118093..231118156hg38UCSC Ensembl
Outerchr2:231118092..231118157hg38UCSC Ensembl
chr2:231982838..231982839hg19UCSC Ensembl
Innerchr2:231982807..231982870hg19UCSC Ensembl
Outerchr2:231982806..231982871hg19UCSC Ensembl
chr2:231691082..231691083hg18UCSC Ensembl
Innerchr2:231691114..231691051hg18UCSC Ensembl
Outerchr2:231691050..231691115hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38261
hg19261
hg18261
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307622
Supporting Variants
SamplesNA19093
Known GenesHTR2B, PSMD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7749525
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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