A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307622



Internal ID14807884
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 StatusM
Merged Variants
Supporting Variantsessv7742146, essv7752745, essv7746918, essv7743296, essv7741833, essv7759846, essv7754696, essv7743979, essv7749525
SamplesNA18502, NA18861, NA18519, NA18916, NA19138, NA19172, NA19093, NA18505, NA18511
Known GenesHTR2B, PSMD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307622
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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