A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7767287



Internal ID13223426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148826642..148826643hg38UCSC Ensembl
Innerchr2:148826620..148826665hg38UCSC Ensembl
Outerchr2:148826619..148826666hg38UCSC Ensembl
chr2:149584211..149584212hg19UCSC Ensembl
Innerchr2:149584189..149584234hg19UCSC Ensembl
Outerchr2:149584188..149584235hg19UCSC Ensembl
chr2:149300681..149300682hg18UCSC Ensembl
Innerchr2:149300704..149300659hg18UCSC Ensembl
Outerchr2:149300658..149300705hg18UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38209
hg19209
hg18209
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307841
Supporting Variants
SamplesNA11931
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7767287
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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