A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597992



Internal ID6638257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141965106..141967010hg38UCSC Ensembl
Innerchr3:141965156..141966960hg38UCSC Ensembl
Outerchr3:141964965..141967151hg38UCSC Ensembl
chr3:141683948..141685852hg19UCSC Ensembl
Innerchr3:141683998..141685802hg19UCSC Ensembl
Outerchr3:141683807..141685993hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg381905
hg191905
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11164319, essv11164325, essv11164315, essv11164327, essv11164320, essv11164298, essv11164289, essv11164293, essv11164316, essv11164292, essv11164302, essv11164290, essv11164306, essv11164324, essv11164304, essv11164303, essv11164288, essv11164297, essv11164317, essv11164291, essv11164299, essv11164310, essv11164307, essv11164312, essv11164295, essv11164294, essv11164308, essv11164296, essv11164318, essv11164309, essv11164300, essv11164328, essv11164311, essv11164321, essv11164329, essv11164305, essv11164326, essv11164322, essv11164313, essv11164301, essv11164314, essv11164323, essv11164287
SamplesNA19028, NA19020, HG03130, NA18504, HG01971, HG02536, NA20356, NA20359, NA19379, HG03246, NA19138, HG03079, HG02634, NA19207, NA19451, NA19200, NA19027, HG03511, HG03088, NA18915, HG02144, HG02508, HG02968, NA19042, HG02881, NA19225, HG03354, NA19395, NA19375, NA19108, NA19037, NA19380, NA20362, NA19324, HG02971, HG03025, HG02053, NA18876, NA19030, NA19430, NA19316, HG03118, NA19346
Known GenesTFDP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597992
Frequency
Sample Size2504
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer