A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20371



Internal ID9618527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:129563598..129607491hg38UCSC Ensembl
InnerchrX:128697575..128741468hg19UCSC Ensembl
InnerchrX:128525256..128569149hg18UCSC Ensembl
InnerchrX:128423110..128467003hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3843894
hg1943894
hg1843894
hg1743894
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758591
Supporting Variants
SamplesNA10830
Known GenesOCRL
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)essv20371
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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