A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5488270



Internal ID9821235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201508948..201510347hg38UCSC Ensembl
chr2:202373671..202375070hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658936
Supporting Variants
SamplesNA20281
Known GenesALS2CR11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5488270
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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