A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5405689



Internal ID8800025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233310767..233317122hg38UCSC Ensembl
chr2:234219413..234225768hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg386356
hg196356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2678091
Supporting Variants
SamplesHG00246
Known GenesSAG
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5405689
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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