A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674630



Internal ID14691801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201777264..201777274hg38UCSC Ensembl
Innerchr2:201777260..201777276hg38UCSC Ensembl
Outerchr2:201777250..201777288hg38UCSC Ensembl
chr2:202641987..202641997hg19UCSC Ensembl
Innerchr2:202641983..202641999hg19UCSC Ensembl
Outerchr2:202641973..202642011hg19UCSC Ensembl
chr2:202350232..202350242hg18UCSC Ensembl
Innerchr2:202350244..202350228hg18UCSC Ensembl
Outerchr2:202350218..202350256hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3428790
Supporting Variants
SamplesNA19239
Known GenesALS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674630
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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