A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607112



Internal ID6994047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148364328..148370577hg38UCSC Ensembl
chr5:147743891..147750140hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg386250
hg196250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1144e214
Supporting Variantsessv12092667, essv12092666
SamplesNA18861, HG03267
Known GenesLOC102546294
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607112
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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