A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662784



Internal ID9928889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:94808550..94809854hg38UCSC Ensembl
chr2:95474295..95475599hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg381305
hg191305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6143656, essv6014130
SamplesNA18988, NA19074
Known GenesANKRD20A8P
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662784
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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