A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12086929



Internal ID2177006
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607060
Supporting Variants
SamplesHG01967
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12086929
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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