A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596121



Internal ID6983438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49196996..49201248hg38UCSC Ensembl
Innerchr3:49196996..49201248hg38UCSC Ensembl
Outerchr3:49196948..49201346hg38UCSC Ensembl
chr3:49234429..49238681hg19UCSC Ensembl
Innerchr3:49234429..49238681hg19UCSC Ensembl
Outerchr3:49234381..49238779hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384253
hg194253
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11009359
SamplesHG01107
Known GenesCCDC36
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596121
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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