A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693769



Internal ID13369295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9405772..9406570hg38UCSC Ensembl
Innerchr2:9405771..9406571hg38UCSC Ensembl
Outerchr2:9404772..9407570hg38UCSC Ensembl
chr2:9545901..9546699hg19UCSC Ensembl
Innerchr2:9545900..9546700hg19UCSC Ensembl
Outerchr2:9544901..9547699hg19UCSC Ensembl
chr2:9463352..9464150hg18UCSC Ensembl
Innerchr2:9464151..9463351hg18UCSC Ensembl
Outerchr2:9462352..9465150hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3414345
Supporting Variants
SamplesNA12892
Known GenesITGB1BP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693769
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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