A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595256



Internal ID6635530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:9980152..9982178hg38UCSC Ensembl
Innerchr3:9980202..9982128hg38UCSC Ensembl
Outerchr3:9980058..9982272hg38UCSC Ensembl
chr3:10021836..10023862hg19UCSC Ensembl
Innerchr3:10021886..10023812hg19UCSC Ensembl
Outerchr3:10021742..10023956hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg382027
hg192027
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10918329, essv10918328, essv10918327, essv10918326, essv10918325, essv10918330
SamplesNA19239, HG03575, NA18499, HG02675, NA18501, NA19121
Known GenesEMC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595256
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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