A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747603



Internal ID10328573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:71552663..71553662hg38UCSC Ensembl
Outerchr13:72126795..72127794hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6835033, essv6851476, essv6851477, essv6787935, essv6891427, essv6733265, essv6732303, essv6966088, essv6912780, essv6706368, essv6792023, essv6688424, essv6815607, essv6806512, essv6746978, essv6909795, essv6695748, essv6862595, essv6819915, essv6862594, essv6928067, essv6752695, essv6823808, essv6691758, essv6894811, essv6940526, essv6891426, essv6796202, essv6772246, essv6842623, essv6940562, essv6803626, essv6688399, essv6876805, essv6673424, essv6945135, essv6920390, essv6728492, essv6831481, essv6765870, essv6905065, essv6807398, essv6959559, essv6702630, essv6867373, essv6779626, essv6796203, essv6761095, essv6716974, essv6838785, essv6735311, essv6897775, essv6882460, essv6932037, essv6857479, essv6800393, essv6900966, essv6668306, essv6932038, essv6885198, essv6827903, essv6909046, essv6738027, essv6882461, essv6712210, essv6698881, essv6739743, essv6888127, essv6749813, essv6936336, essv6870850, essv6972662, essv6867374, essv6775865, essv6803627, essv6977547, essv6823807, essv6924514, essv6758345, essv6909047, essv6953413, essv6681758
SamplesSSM059, SSM036, SSM083, SSM071, SSM027, SSM046, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM050, SSM074, SSM088, SSM002, SSM057, SSM023, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM003, SSM031, SSM067, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM005, SSM080, SSM037, SSM077, SSM022, SSM055, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesDACH1
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)esv2747603
Frequency
Sample Size96
Observed Gain0
Observed Loss72
Observed Complex0
Frequencyn/a


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