A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586495



Internal ID6974015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76180993..76186238hg38UCSC Ensembl
Innerchr1:76180993..76186238hg38UCSC Ensembl
Outerchr1:76180493..76186738hg38UCSC Ensembl
chr1:76646678..76651923hg19UCSC Ensembl
Innerchr1:76646678..76651923hg19UCSC Ensembl
Outerchr1:76646178..76652423hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg385246
hg195246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9978292
SamplesNA20806
Known GenesST6GALNAC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586495
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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