A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605573



Internal ID6645817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80402118..80602933hg38UCSC Ensembl
chr5:79697937..79898752hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38200816
hg19200816
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11955714
SamplesHG03372
Known GenesANKRD34B, FAM151B, ZFYVE16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605573
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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