A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747727



Internal ID10328697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:81781061..81782111hg38UCSC Ensembl
Outerchr13:82355196..82356246hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg381051
hg191051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6897782, essv6713164, essv6959575, essv6846094, essv6728504, essv6870859, essv6815615, essv6827913, essv6783748, essv6909062, essv6779630, essv6823819, essv6695755, essv6924524, essv6775870, essv6876813, essv6741244, essv6702642, essv6739809, essv6691768, essv6953422, essv6945149, essv6920398, essv6977568, essv6972707, essv6940536, essv6873818, essv6803631, essv6936349, essv6879610, essv6831495, essv6709656, essv6673451, essv6966104, essv6928075, essv6949272, essv6842630, essv6773975, essv6685238, essv6940607, essv6905070, essv6732313, essv6772251, essv6971022, essv6800404, essv6792034, essv6716984, essv6768648, essv6706378, essv6809533, essv6787947, essv6857498, essv6677997, essv6901032, essv6698889, essv6932053, essv6851497, essv6912789, essv6838794, essv6807464, essv6681767
SamplesSSM036, SSM008, SSM083, SSM027, SSM024, SSM075, SSM046, SSM064, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM093, SSM042, SSM041, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM026, SSM017, SSM019, SSM032, SSM003, SSM031, SSM067, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM020, SSM007, SSM015, SSM080, SSM037, SSM077, SSM022, SSM091, SSM070, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM012
Known Genes
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)esv2747727
Frequency
Sample Size96
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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