A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745554



Internal ID10326524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11168176..11168414hg38UCSC Ensembl
Outerchr12:11320775..11321013hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6904909, essv6949082, essv6702439, essv6862359, essv6698742, essv6959243, essv6908860, essv6768497, essv6803496, essv6806379, essv6827686, essv6673126, essv6685071, essv6687353, essv6891273, essv6677802, essv6977154, essv6931831, essv6838612
SamplesSSM083, SSM024, SSM064, SSM038, SSM097, SSM039, SSM013, SSM073, SSM074, SSM088, SSM029, SSM026, SSM032, SSM031, SSM014, SSM020, SSM005, SSM080, SSM034
Known GenesPRH1-PRR4
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)esv2745554
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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