A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673066



Internal ID9592485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62477544..62482154hg38UCSC Ensembl
chr11:62245016..62249626hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg384611
hg194611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5614608
SamplesNA07048
Known GenesAHNAK
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673066
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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