A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11945132



Internal ID4912605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74684378..74705197hg38UCSC Ensembl
chr5:73980203..74001022hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3820820
hg1920820
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605433
Supporting Variants
SamplesNA12749
Known GenesHEXB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11945132
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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