A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744027



Internal ID10324997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:3103028..3104189hg38UCSC Ensembl
Outerchr11:3124258..3125419hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381162
hg191162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672858, essv6716612, essv6823447, essv6935932, essv6737749, essv6819478, essv6919977, essv6728159, essv6831130, essv6787583, essv6771894, essv6695359, essv6791671, essv6904740, essv6815306, essv6800018, essv6709821, essv6779272, essv6758089, essv6940133, essv6850884, essv6838447, essv6804266, essv6937451, essv6912411, essv6724319, essv6752433, essv6953035, essv6709338, essv6976819, essv6770209, essv6743889, essv6897509, essv6795851, essv6965486, essv6760822, essv6749540, essv6775551, essv6740900, essv6876514, essv6927768, essv6944706, essv6897610, essv6755396, essv6845808, essv6931641, essv6720516, essv6907340
SamplesSSM059, SSM008, SSM083, SSM071, SSM027, SSM045, SSM046, SSM079, SSM065, SSM013, SSM009, SSM050, SSM002, SSM041, SSM057, SSM023, SSM058, SSM092, SSM021, SSM069, SSM061, SSM029, SSM017, SSM019, SSM003, SSM031, SSM067, SSM044, SSM001, SSM086, SSM066, SSM085, SSM081, SSM072, SSM020, SSM015, SSM078, SSM053, SSM037, SSM077, SSM022, SSM070, SSM025, SSM099, SSM043, SSM052, SSM056, SSM012
Known GenesOSBPL5
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)esv2744027
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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