A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734384



Internal ID10318020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:26564227..26660479hg38UCSC Ensembl
Outerchr10:26853156..26949408hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3896253
hg1996253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6698523, essv6791511, essv6740780, essv6735876, essv6939983, essv6908525, essv6752327, essv6672622, essv6672623, essv6834601, essv6863008, essv6870488, essv6716448, essv6944542, essv6879257, essv6879258, essv6936207, essv6795692, essv6791509, essv6842126, essv6935765, essv6970435, essv6832510, essv6803188, essv6705914, essv6890978, essv6775408, essv6783206, essv6831001, essv6809126, essv6908526, essv6735865, essv6830999, essv6908524, essv6783207, essv6897401, essv6884868, essv6691322, essv6919812, essv6765575, essv6705913, essv6695191, essv6906351, essv6862997, essv6734966, essv6919811, essv6904607, essv6815173, essv6834602, essv6755278, essv6709226, essv6900392, essv6731782, essv6832521, essv6803177, essv6716449, essv6763181, essv6681281, essv6873440, essv6845692, essv6705916, essv6740783, essv6931479, essv6866728, essv6897400, essv6740782, essv6890979, essv6965236, essv6795693, essv6677501, essv6976531, essv6799874, essv6765574, essv6919813, essv6873439, essv6763182, essv6944543, essv6866727, essv6809127, essv6709098, essv6936218, essv6724178, essv6695190, essv6870484, essv6705917, essv6831000, essv6728007, essv6927656, essv6827366, essv6919814, essv6695193, essv6695189, essv6976530, essv6870485, essv6976532, essv6827367, essv6775407, essv6691323, essv6842127, essv6677499, essv6783208, essv6709087, essv6695192, essv6904606, essv6970434, essv6771754, essv6873441, essv6705915, essv6931478, essv6830997, essv6700154, essv6740781, essv6815174, essv6728006
SamplesSSM100, SSM036, SSM071, SSM027, SSM075, SSM045, SSM046, SSM011, SSM065, SSM038, SSM097, SSM013, SSM009, SSM093, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM084, SSM090, SSM021, SSM047, SSM029, SSM062, SSM089, SSM017, SSM019, SSM032, SSM003, SSM031, SSM001, SSM014, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM080, SSM037, SSM077, SSM022, SSM010, SSM091, SSM070, SSM095, SSM099, SSM043, SSM052, SSM049, SSM063
Known GenesAPBB1IP, LINC00202-2, LINC00264
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)esv2734384
Frequency
Sample Size96
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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