A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5629373



Internal ID8606776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73203803..73204115hg38UCSC Ensembl
chr2:73430931..73431243hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2668838
Supporting Variants
SamplesNA12843
Known GenesNOTO
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5629373
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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