A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758049



Internal ID9633508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:38621193..38743309hg38UCSC Ensembl
Innerchr6:38588969..38711085hg19UCSC Ensembl
Innerchr6:38696947..38819063hg18UCSC Ensembl
Innerchr6:38696947..38819063hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38122117
hg19122117
hg18122117
hg17122117
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759421
Supporting Variantsessv20915, essv15102, essv379, essv20047, essv3048, essv7097
SamplesNA12801, NA07048, NA18981, NA18537, NA18971, NA19129
Known GenesBTBD9, DNAH8, GLO1
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)esv2758049
Frequency
Sample Size270
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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