A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743528



Internal ID10324498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:131110779..131114511hg38UCSC Ensembl
Outerchr10:132909042..132912774hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg383733
hg193733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6716556, essv6842224, essv6684886, essv6763250, essv6731893, essv6724271, essv6876490, essv6672796, essv6775499, essv6952976, essv6758069, essv6891072, essv6976742, essv6688105, essv6815256, essv6944668, essv6882159, essv6904693, essv6691409, essv6884937, essv6795791, essv6937163, essv6702216, essv6737728, essv6970549, essv6850826, essv6791614, essv6799967, essv6940088, essv6709310, essv6862114, essv6720467, essv6735041, essv6834683, essv6907152, essv6752412, essv6912365, essv6709766, essv6779231, essv6755367, essv6698605, essv6827473, essv6866849, essv6768328, essv6845780, essv6823405
SamplesSSM059, SSM036, SSM071, SSM045, SSM064, SSM079, SSM038, SSM097, SSM039, SSM013, SSM050, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM047, SSM029, SSM062, SSM089, SSM035, SSM094, SSM003, SSM031, SSM067, SSM044, SSM086, SSM066, SSM006, SSM085, SSM072, SSM082, SSM015, SSM080, SSM077, SSM022, SSM070, SSM095, SSM025, SSM034, SSM043, SSM049
Known GenesTCERG1L
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)esv2743528
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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