A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604667



Internal ID6644917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33992263..33995770hg38UCSC Ensembl
Innerchr5:33992279..33995754hg38UCSC Ensembl
Outerchr5:33992247..33995786hg38UCSC Ensembl
chr5:33992368..33995875hg19UCSC Ensembl
Innerchr5:33992384..33995859hg19UCSC Ensembl
Outerchr5:33992352..33995891hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg383508
hg193508
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11863078
SamplesNA12342
Known GenesAMACR, C1QTNF3-AMACR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604667
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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