A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3448213



Internal ID15295162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27670359..27670388hg38UCSC Ensembl
Innerchr2:27670361..27670386hg38UCSC Ensembl
Outerchr2:27670357..27670390hg38UCSC Ensembl
chr2:27893226..27893255hg19UCSC Ensembl
Innerchr2:27893228..27893253hg19UCSC Ensembl
Outerchr2:27893224..27893257hg19UCSC Ensembl
chr2:27746730..27746759hg18UCSC Ensembl
Innerchr2:27746732..27746757hg18UCSC Ensembl
Outerchr2:27746728..27746761hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863882, essv7863881
SamplesNA12005, NA18520
Known GenesSLC4A1AP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3448213
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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