A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745402



Internal ID9979686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1908207..1909038hg38UCSC Ensembl
Outerchr12:2017373..2018204hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38832
hg19832
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977098, essv6842395, essv6749648, essv6758199, essv6779419, essv6965713, essv6735146, essv6920118, essv6791812, essv6970757, essv6673093, essv6959195, essv6737859, essv6706175, essv6831274, essv6865266, essv6716748, essv6772013, essv6885052, essv6746806, essv6681530, essv6743992, essv6908318, essv6857134
SamplesSSM065, SSM027, SSM053, SSM055, SSM033, SSM084, SSM040, SSM043, SSM031, SSM067, SSM050, SSM056, SSM017, SSM011, SSM028, SSM029, SSM095, SSM002, SSM087, SSM026, SSM049, SSM059, SSM081, SSM070
Known GenesCACNA2D4
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)esv2745402
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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