A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607692



Internal ID6994624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177683992..177717007hg38UCSC Ensembl
chr5:177110993..177144008hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3833016
hg1933016
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12143419, essv12143421, essv12143418, essv12143417, essv12143415, essv12143420, essv12143416, essv12143414
SamplesHG02895, NA18558, NA19385, HG04185, HG03058, NA20318, HG03024, HG03401
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607692
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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