A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727542



Internal ID9961852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:48659397..48659897hg38UCSC Ensembl
Outerchr4:48661414..48661914hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6751200, essv6914643, essv6899239, essv6844515, essv6707956, essv6667278, essv6836921, essv6883487, essv6942769, essv6848274, essv6934145, essv6906911, essv6973828, essv6722785, essv6864934, essv6883821, essv6755710, essv6929921, essv6711362, essv6896401, essv6777678, essv6724643, essv6674698, essv6748356, essv6922575, essv6745525, essv6734008, essv6700532, essv6854433, essv6774166, essv6789967, essv6872324, essv6757039, essv6730402, essv6736571, essv6810891, essv6881005, essv6923530, essv6726613, essv6956451, essv6715018, essv6938474, essv6947293, essv6822210, essv6860144, essv6875299, essv6849375, essv6893006, essv6869299, essv6918223, essv6968808, essv6850797, essv6829706, essv6926358, essv6754116, essv6817519, essv6910846, essv6956122, essv6670244, essv6962831, essv6903237, essv6916484, essv6791021
SamplesSSM010, SSM022, SSM007, SSM027, SSM092, SSM013, SSM086, SSM006, SSM055, SSM091, SSM099, SSM042, SSM078, SSM043, SSM088, SSM089, SSM090, SSM031, SSM020, SSM016, SSM057, SSM001, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM041, SSM005, SSM012, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM021, SSM002, SSM087, SSM046, SSM019, SSM023, SSM004, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070
Known GenesFRYL
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)esv2727542
Frequency
Sample Size96
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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