A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745551



Internal ID9979835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11091435..11133544hg38UCSC Ensembl
Outerchr12:11244034..11286143hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3842110
hg1942110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv173e201
Supporting Variantsessv6688279, essv6681562, essv6959237, essv6894635, essv6924331, essv6876656, essv6720677, essv6897645, essv6851152, essv6857174, essv6706207, essv6687298, essv6970793, essv6924332, essv6796017, essv6812207, essv6803492, essv6687276, essv6959239, essv6755536, essv6873672, essv6838611, essv6702438, essv6791844, essv6977153, essv6949081, essv6732112, essv6885077, essv6815458, essv6800207, essv6809367
SamplesSSM083, SSM071, SSM024, SSM075, SSM087, SSM039, SSM073, SSM058, SSM028, SSM092, SSM047, SSM018, SSM029, SSM026, SSM035, SSM044, SSM086, SSM033, SSM040, SSM072, SSM005, SSM077, SSM076, SSM091, SSM070, SSM095, SSM099, SSM098
Known GenesPRH1-PRR4, TAS2R30, TAS2R43
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2745551
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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