A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603746



Internal ID6644000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:392166..428082hg38UCSC Ensembl
Innerchr5:392316..427932hg38UCSC Ensembl
Outerchr5:392016..428232hg38UCSC Ensembl
chr5:392281..428197hg19UCSC Ensembl
Innerchr5:392431..428047hg19UCSC Ensembl
Outerchr5:392131..428347hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3835917
hg1935917
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11765498, essv11765499
SamplesHG03166, HG01855
Known GenesAHRR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603746
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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