A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595794



Internal ID6983112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:33380353..33381141hg38UCSC Ensembl
Innerchr3:33380503..33380991hg38UCSC Ensembl
Outerchr3:33380203..33381291hg38UCSC Ensembl
chr3:33421845..33422633hg19UCSC Ensembl
Innerchr3:33421995..33422483hg19UCSC Ensembl
Outerchr3:33421695..33422783hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg38789
hg19789
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10979317, essv10979327, essv10979319, essv10979326, essv10979328, essv10979324, essv10979318, essv10979320, essv10979321, essv10979322, essv10979325, essv10979323
SamplesNA19066, NA18979, HG00729, NA19005, NA18605, NA18525, HG00533, NA18555, NA18974, NA18564, NA18562, NA18997
Known GenesFBXL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595794
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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