A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605448



Internal ID6645692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75534375..75540313hg38UCSC Ensembl
Innerchr5:75534413..75540276hg38UCSC Ensembl
Outerchr5:75534338..75540351hg38UCSC Ensembl
chr5:74830200..74836138hg19UCSC Ensembl
Innerchr5:74830238..74836101hg19UCSC Ensembl
Outerchr5:74830163..74836176hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg385939
hg195939
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11945521
SamplesHG03663
Known GenesPOLK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605448
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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