A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11943855



Internal ID2911076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72662070..72744756hg38UCSC Ensembl
chr5:71957897..72040583hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3882687
hg1982687
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605407
Supporting Variants
SamplesHG02577
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11943855
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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