A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758062



Internal ID9633521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:77390303..77573325hg38UCSC Ensembl
Innerchr6:78100020..78283042hg19UCSC Ensembl
Innerchr6:78156739..78339761hg18UCSC Ensembl
Innerchr6:78156739..78339761hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38183023
hg19183023
hg18183023
hg17183023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759445
Supporting Variantsessv2434, essv16315, essv5165
SamplesNA18999, NA18564, NA19193
Known GenesHTR1B
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)esv2758062
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer