A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757960



Internal ID9633419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143427140..144210439hg38UCSC Ensembl
Innerchr4:144348293..145131592hg19UCSC Ensembl
Innerchr4:144567743..145351042hg18UCSC Ensembl
Innerchr4:144705898..145489197hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38783300
hg19783300
hg18783300
hg17783300
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759288
Supporting Variantsessv23975, essv8418, essv16952, essv5598, essv11818, essv19695, essv2453, essv15865, essv6877, essv8770, essv13199, essv18125, essv11936, essv8097, essv1249, essv17294, essv4763, essv16745, essv14590, essv23129, essv13076, essv13593, essv12680, essv15094, essv24982, essv12510, essv23029, essv5726, essv11854, essv15461, essv15550, essv16317, essv24510, essv11858, essv21427, essv9897, essv12622, essv17472, essv18378, essv4471, essv23248, essv3897, essv19237, essv3024, essv22511, essv20215, essv13579, essv803, essv15002, essv10750
SamplesNA18502, NA12717, NA19145, NA18999, NA19092, NA07029, NA18870, NA19127, NA12812, NA18995, NA12802, NA12891, NA12762, NA19137, NA19207, NA10839, NA18973, NA11993, NA18605, NA18529, NA18516, NA10838, NA18981, NA19221, NA18856, NA12249, NA12264, NA12144, NA18523, NA19160, NA18593, NA11882, NA19206, NA12716, NA19144, NA19193, NA19223, NA18994, NA19093, NA18521, NA18500, NA19102, NA18872, NA18552, NA18852, NA18505, NA19129, NA18620
Known GenesFREM3, GAB1, GUSBP5, GYPA, GYPB, GYPE, SMARCA5, SMARCA5-AS1
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)esv2757960
Frequency
Sample Size270
Observed Gain29
Observed Loss21
Observed Complex0
Frequencyn/a


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