A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678044



Internal ID9944149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:90441984..90444560hg38UCSC Ensembl
chr5:89737801..89740377hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg382577
hg192577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6285779, essv6272472, essv5634011, essv6290315, essv6424215, essv5435133, essv5953610, essv6203981, essv5510424, essv6520566
SamplesNA19909, NA19382, NA19457, NA18868, NA19385, NA19789, NA19921, NA19449, NA19248, NA19102
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678044
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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