A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740135



Internal ID9974477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:47147952..47149274hg38UCSC Ensembl
OuterchrX:47007351..47008673hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381323
hg191323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6866203, essv6765252, essv6771321, essv6767926, essv6919391, essv6829520, essv6723756, essv6680884, essv6911829, essv6957856, essv6757723, essv6743492, essv6892321, essv6732465, essv6754939, essv6671877, essv6799610, essv6762929, essv6932795, essv6849925, essv6746285, essv6760408, essv6751981, essv6935258, essv6876106, essv6706776, essv6818795, essv6765313, essv6740401, essv6734686, essv6952432, essv6673931, essv6855969, essv6969936, essv6775035, essv6861461, essv6965306, essv6737334, essv6975695, essv6667834, essv6908105
SamplesSSM059, SSM008, SSM045, SSM064, SSM065, SSM087, SSM009, SSM050, SSM088, SSM057, SSM058, SSM028, SSM092, SSM021, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM003, SSM031, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM007, SSM015, SSM078, SSM053, SSM010, SSM055, SSM025, SSM004, SSM052, SSM049, SSM030, SSM063, SSM012
Known GenesRBM10
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)esv2740135
Frequency
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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