A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607060



Internal ID6993995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:145294324..145337393hg38UCSC Ensembl
chr5:144673887..144716956hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3843070
hg1943070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12086940, essv12086930, essv12086941, essv12086923, essv12086927, essv12086925, essv12086931, essv12086928, essv12086922, essv12086936, essv12086942, essv12086938, essv12086933, essv12086937, essv12086939, essv12086926, essv12086924, essv12086932, essv12086935, essv12086929, essv12086934
SamplesNA19794, HG02298, HG02285, NA19746, HG01350, HG01967, HG01942, HG01142, HG02008, HG02286, HG01992, NA19729, HG02274, NA19741, NA19759, NA19716, HG01377, HG01431, HG01920, HG01464, NA19755
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607060
Frequency
Sample Size2504
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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