A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606310



Internal ID6993246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:113152598..113162192hg38UCSC Ensembl
Innerchr5:113152635..113162155hg38UCSC Ensembl
Outerchr5:113152561..113162229hg38UCSC Ensembl
chr5:112488295..112497889hg19UCSC Ensembl
Innerchr5:112488332..112497852hg19UCSC Ensembl
Outerchr5:112488258..112497926hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg389595
hg199595
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12023440
SamplesHG01849
Known GenesMCC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606310
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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