A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744347



Internal ID10325317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:36287075..36287328hg38UCSC Ensembl
Outerchr11:36308625..36308878hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6965540, essv6823481, essv6931668, essv6879367, essv6953067, essv6775566, essv6737176, essv6834745, essv6870600, essv6866944, essv6731975, essv6976888, essv6850948, essv6838477, essv6783415, essv6724349, essv6716640, essv6787610, essv6688160, essv6856969, essv6904766, essv6937740, essv6771917, essv6737788, essv6698648, essv6864442, essv6912439, essv6706073, essv6908703, essv6695392, essv6752452, essv6831162, essv6702285, essv6944745, essv6768380, essv6970636, essv6791700, essv6728188, essv6969940, essv6803373, essv6920001, essv6709362, essv6891129, essv6800047, essv6681437, essv6887886, essv6924178, essv6779300, essv6720543, essv6959031, essv6897536, essv6827552
SamplesSSM083, SSM027, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM073, SSM093, SSM050, SSM041, SSM057, SSM023, SSM028, SSM090, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM035, SSM003, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM080, SSM037, SSM070, SSM025, SSM004, SSM099, SSM043
Known GenesCOMMD9
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)esv2744347
Frequency
Sample Size96
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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