A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596095



Internal ID6983412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47891705..47892109hg38UCSC Ensembl
Innerchr3:47891706..47892108hg38UCSC Ensembl
Outerchr3:47891704..47892110hg38UCSC Ensembl
chr3:47933195..47933599hg19UCSC Ensembl
Innerchr3:47933196..47933598hg19UCSC Ensembl
Outerchr3:47933194..47933600hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11004411, essv11004412, essv11004410, essv11004413, essv11004409, essv11004408
SamplesHG01860, HG01873, HG01853, HG01840, HG02395, HG02075
Known GenesMAP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596095
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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