A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758253



Internal ID9633712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4034715..4488958hg38UCSC Ensembl
Innerchr11:4055945..4510188hg19UCSC Ensembl
Innerchr11:4012521..4466764hg18UCSC Ensembl
Innerchr11:4012521..4466764hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38454244
hg19454244
hg18454244
hg17454244
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759797
Supporting Variantsessv12299, essv9705, essv19391, essv11973, essv5115, essv12237, essv6195, essv14088, essv2235, essv10837, essv323, essv8735, essv14965, essv24228, essv3090, essv12673, essv6239, essv10409, essv1793, essv12730, essv17026, essv15470, essv8218, essv10072, essv2872, essv13077, essv21285, essv17303, essv3365, essv2789, essv16259, essv10626, essv11441, essv8470, essv4842, essv6688, essv11939, essv8786, essv16807, essv17108, essv17056, essv118, essv13724, essv12810, essv15287, essv7002, essv15844, essv874, essv17265, essv14297, essv8602, essv3566, essv5924, essv16892, essv12398, essv7065, essv8332, essv16452, essv1411, essv9164, essv10529, essv561, essv23408, essv6580, essv16706, essv15386, essv10764, essv235, essv4490
SamplesNA18998, NA18502, NA19222, NA19203, NA18621, NA18861, NA18508, NA18855, NA19092, NA18870, NA18969, NA19171, NA18550, NA10854, NA19119, NA19138, NA19238, NA19172, NA19128, NA18966, NA10855, NA19239, NA19007, NA19120, NA19194, NA19161, NA19205, NA18516, NA18871, NA18948, NA18503, NA18537, NA19142, NA19000, NA11840, NA18856, NA18857, NA18532, NA19099, NA19101, NA18523, NA10856, NA18858, NA18945, NA18608, NA18953, NA19094, NA18914, NA18517, NA18540, NA18913, NA19240, NA19144, NA18971, NA19223, NA18987, NA18636, NA18500, NA19116, NA18872, NA18552, NA18852, NA18505, NA18968, NA19139, NA18612, NA18965, NA18577, NA18997
Known GenesLOC100506082, OR52B4, OR52K1, OR52K2, RRM1, STIM1, TRIM21
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2758253
Frequency
Sample Size270
Observed Gain46
Observed Loss23
Observed Complex0
Frequencyn/a


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