A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593910



Internal ID6981232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197733967..197741383hg38UCSC Ensembl
chr2:198598691..198606107hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg387417
hg197417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10815845, essv10815847, essv10815844, essv10815846, essv10815843
SamplesHG01242, HG02252, NA20773, HG00131, HG01695
Known GenesBOLL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593910
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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