A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758248



Internal ID9980325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133030918..133408798hg38UCSC Ensembl
Innerchr10:134844422..135222302hg19UCSC Ensembl
Innerchr10:134694412..135072292hg18UCSC Ensembl
Innerchr10:134733303..135111183hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38377881
hg19377881
hg18377881
hg17377881
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759793
Supporting Variantsessv21665, essv2278, essv4289, essv4847, essv11234, essv17051, essv6707, essv13472, essv11030, essv15214, essv7081, essv3948, essv15676, essv11180, essv4355, essv7318, essv1496, essv3340, essv18407, essv20368, essv6370, essv4586, essv3081, essv3758, essv7543, essv20004, essv1962, essv4654, essv1111, essv1204, essv7750, essv17302, essv22540, essv10747, essv2349, essv14097, essv18640, essv16910, essv5415
SamplesNA19204, NA18861, NA18524, NA18980, NA18603, NA18545, NA12248, NA18959, NA18969, NA18563, NA19192, NA18940, NA07048, NA18964, NA18970, NA19172, NA18966, NA18951, NA19205, NA12234, NA18537, NA18573, NA10830, NA18856, NA12249, NA18912, NA18523, NA18570, NA18945, NA18608, NA19094, NA18542, NA18961, NA18540, NA07348, NA18594, NA19143, NA19211, NA18609
Known GenesADAM8, CALY, ECHS1, FUOM, GPR123, KNDC1, MIR202, MIR202HG, MIR3944, MTG1, PAOX, PRAP1, TUBGCP2, UTF1, VENTX, ZNF511
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)esv2758248
Frequency
Sample Size270
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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