A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664768



Internal ID9584187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201739128..201740216hg38UCSC Ensembl
chr2:202603851..202604939hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381089
hg191089
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5567459, essv5738932, essv6004584, essv6199398, essv6269760, essv5953124
SamplesNA19311, NA19451, NA19373, NA19381, NA19448, NA19439
Known GenesALS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664768
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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