A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605219



Internal ID6992245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:61667011..61667493hg38UCSC Ensembl
Innerchr5:61667011..61667493hg38UCSC Ensembl
Outerchr5:61666768..61667788hg38UCSC Ensembl
chr5:60962838..60963320hg19UCSC Ensembl
Innerchr5:60962838..60963320hg19UCSC Ensembl
Outerchr5:60962595..60963615hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38483
hg19483
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11925304, essv11925299, essv11925303, essv11925301, essv11925300, essv11925298, essv11925302
SamplesNA19393, HG03452, HG03571, NA19318, HG02635, NA19375, NA19108
Known GenesC5orf64
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605219
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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