A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595307



Internal ID6982625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:11752599..11754678hg38UCSC Ensembl
Innerchr3:11752636..11754641hg38UCSC Ensembl
Outerchr3:11752562..11754715hg38UCSC Ensembl
chr3:11794073..11796152hg19UCSC Ensembl
Innerchr3:11794110..11796115hg19UCSC Ensembl
Outerchr3:11794036..11796189hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg382080
hg192080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10924520, essv10924521
SamplesHG01880, NA19072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595307
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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