A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590920



Internal ID6978248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57235471..57372497hg38UCSC Ensembl
chr2:57462606..57599632hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38137027
hg19137027
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10517229, essv10517228
SamplesNA07347, NA20544
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590920
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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