A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744504



Internal ID9978788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:49737666..49739331hg38UCSC Ensembl
Outerchr11:49759218..49760883hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg381666
hg191666
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6758134, essv6804599, essv6845853, essv6712487, essv6771939, essv6735096, essv6940194, essv6677684, essv6916010, essv6752473, essv6924209, essv6763306, essv6724378, essv6746736, essv6870630, essv6787637, essv6907751, essv6775588, essv6873570, essv6737807, essv6800076, essv6857005, essv6897562, essv6866979, essv6944782, essv6884992, essv6702313, essv6728214, essv6912464, essv6904791, essv6706097, essv6908735, essv6695422, essv6937963, essv6900542, essv6760871, essv6823515, essv6672949, essv6698669, essv6765694, essv6791730, essv6716666
SamplesSSM100, SSM059, SSM045, SSM046, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM009, SSM050, SSM002, SSM057, SSM023, SSM090, SSM018, SSM069, SSM061, SSM062, SSM089, SSM032, SSM003, SSM031, SSM001, SSM014, SSM066, SSM085, SSM040, SSM072, SSM015, SSM016, SSM037, SSM022, SSM091, SSM055, SSM070, SSM095, SSM099, SSM043, SSM049, SSM063
Known GenesLOC440040
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)esv2744504
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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