A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672729



Internal ID9592148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:67703303..67758635hg38UCSC Ensembl
Outerchr9:67702935..67759029hg38UCSC Ensembl
Innerchr9:46368816..46423022hg19UCSC Ensembl
Outerchr9:46368445..46423392hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3856095
hg1954948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6566873, essv6268018, essv5918195, essv5906705, essv5519246, essv6064140, essv6063686, essv6064779, essv5517256, essv5750583, essv5513663, essv5644240, essv6152692, essv6016814, essv5745896, essv5463135, essv5750433, essv5646228, essv6455360, essv6256712, essv5523590, essv5574884, essv6403895, essv5960203, essv5778224, essv5629098, essv5475639, essv5835269, essv5590676, essv6121107, essv5753639, essv6295858, essv6233924, essv5416218, essv6166193, essv6458286, essv6542848, essv5910778, essv6229501
SamplesHG01441, HG01359, HG01440, HG01250, HG01353, HG01342, HG01365, HG01492, HG01491, HG01350, HG01134, HG01551, HG01254, HG01550, HG01140, HG01456, HG01375, HG01378, HG01124, HG01360, HG01113, HG01136, HG01253, HG01497, HG01437, HG01465, HG01356, HG01351, HG01383, HG01149, HG01137, HG01112, HG01390, HG01366, HG01251, HG01374, HG01462, HG01489, HG01377
Known GenesFAM27E1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672729
Frequency
Sample Size1151
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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