A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658413



Internal ID9577832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:46557630..46570107hg38UCSC Ensembl
Outerchr11:46557473..46570268hg38UCSC Ensembl
Innerchr11:46579180..46591657hg19UCSC Ensembl
Outerchr11:46579023..46591818hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3812796
hg1912796
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6055100
SamplesHG00118
Known GenesAMBRA1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658413
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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