A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758595



Internal ID9980672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:142781914..142980929hg38UCSC Ensembl
InnerchrX:141869700..142068715hg19UCSC Ensembl
InnerchrX:141697366..141896381hg18UCSC Ensembl
InnerchrX:141595220..141794235hg17UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38199016
hg19199016
hg18199016
hg17199016
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758897
Supporting Variantsessv3516, essv1443, essv17513, essv23232, essv1230, essv18947, essv5448, essv17669, essv896, essv12757, essv23839, essv15810, essv5290, essv20802, essv19637, essv2654, essv12597, essv6709, essv475, essv1372, essv2272, essv18724, essv6612, essv22663, essv4714, essv13467, essv3742, essv1016, essv23904, essv24796, essv17234, essv5401, essv211, essv3964, essv17146, essv20265, essv11083, essv7722
SamplesNA18621, NA12814, NA07029, NA12146, NA19098, NA18633, NA12155, NA18967, NA18563, NA19192, NA19171, NA19005, NA18944, NA18995, NA12762, NA12005, NA18970, NA18966, NA19007, NA12752, NA07022, NA18948, NA18503, NA19000, NA12144, NA18608, NA18914, NA18632, NA11881, NA18961, NA18952, NA12874, NA19223, NA19211, NA10860, NA18624, NA18622, NA18965
Known Genes
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)esv2758595
Frequency
Sample Size270
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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