A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9649



Internal ID9631805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:140904098..141050500hg38UCSC Ensembl
InnerchrX:139986263..140144686hg19UCSC Ensembl
InnerchrX:139813929..139972352hg18UCSC Ensembl
InnerchrX:139711783..139870206hg17UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg38146403
hg19158424
hg18158424
hg17158424
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758594
Supporting Variants
SamplesNA18913
Known GenesMIR320D2, SPANXB1, SPANXB2, SPANXF1
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)essv9649
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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