A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863882



Internal ID13547545
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 StatusS
Merged Variantsesv3448213
Supporting Variants
SamplesNA18520
Known GenesSLC4A1AP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863882
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer