A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597171



Internal ID6637441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100269064..100269976hg38UCSC Ensembl
Innerchr3:100269069..100269971hg38UCSC Ensembl
Outerchr3:100269059..100269981hg38UCSC Ensembl
chr3:99987908..99988820hg19UCSC Ensembl
Innerchr3:99987913..99988815hg19UCSC Ensembl
Outerchr3:99987903..99988825hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38913
hg19913
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11084403, essv11084402
SamplesHG02792, NA20875
Known GenesTBC1D23
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597171
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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