A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3376309



Internal ID14876574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223775414..223775414hg38UCSC Ensembl
Innerchr2:223775413..223775415hg38UCSC Ensembl
Outerchr2:223775364..223775464hg38UCSC Ensembl
chr2:224640131..224640131hg19UCSC Ensembl
Innerchr2:224640130..224640132hg19UCSC Ensembl
Outerchr2:224640081..224640181hg19UCSC Ensembl
chr2:224348375..224348375hg18UCSC Ensembl
Innerchr2:224348376..224348374hg18UCSC Ensembl
Outerchr2:224348325..224348425hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38984
hg19984
hg18984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741054
SamplesNA19240
Known GenesAP1S3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3376309
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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