A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747019



Internal ID10327989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132564559..132564822hg38UCSC Ensembl
Outerchr12:133141145..133141408hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6691702, essv6728438, essv6835643, essv6741169, essv6959457, essv6732241, essv6965971, essv6806854, essv6857382, essv6779566, essv6695673, essv6953343, essv6920321, essv6900365, essv6765841, essv6724606, essv6772169, essv6809462, essv6931959, essv6972206, essv6716910, essv6905012, essv6939951, essv6846036, essv6977419, essv6970937, essv6936267, essv6791965, essv6668274, essv6681689, essv6803579, essv6755660, essv6752650, essv6834982, essv6746933, essv6897727, essv6758299, essv6876751, essv6763470, essv6879565, essv6713098, essv6819828, essv6737983, essv6909351, essv6806462, essv6940458, essv6768583, essv6744112, essv6949198
SamplesSSM059, SSM036, SSM027, SSM024, SSM075, SSM045, SSM046, SSM064, SSM065, SSM087, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM002, SSM057, SSM058, SSM028, SSM092, SSM021, SSM047, SSM029, SSM062, SSM026, SSM017, SSM003, SSM067, SSM033, SSM085, SSM082, SSM020, SSM078, SSM053, SSM037, SSM022, SSM010, SSM055, SSM070, SSM025, SSM004, SSM099, SSM043, SSM052, SSM030, SSM063, SSM012
Known GenesFBRSL1
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)esv2747019
Frequency
Sample Size96
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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