A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738936



Internal ID9973277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:111570985..111571613hg38UCSC Ensembl
Outerchr9:114333265..114333893hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38629
hg19629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6939898, essv6735253, essv6834517, essv6965069, essv6701993, essv6695709, essv6827273, essv6879205, essv6887678, essv6905695, essv6768183, essv6799778, essv6803198, essv6731685, essv6815090, essv6775311, essv6861859, essv6856522, essv6948617, essv6724081, essv6743715, essv6712629, essv6876345, essv6787313, essv6672453, essv6809064, essv6752245, essv6802432, essv6897339, essv6727925
SamplesSSM022, SSM007, SSM027, SSM092, SSM053, SSM082, SSM099, SSM042, SSM088, SSM064, SSM031, SSM072, SSM057, SSM001, SSM039, SSM024, SSM045, SSM077, SSM093, SSM009, SSM066, SSM047, SSM073, SSM069, SSM002, SSM087, SSM046, SSM096, SSM075, SSM080
Known GenesPTGR1, ZNF483
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)esv2738936
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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