A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592244



Internal ID6979571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:122965432..123148508hg38UCSC Ensembl
chr2:123723008..123906084hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38183077
hg19183077
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10652532
SamplesHG03963
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592244
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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