A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758931



Internal ID9981076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:36154538..36421487hg38UCSC Ensembl
Innerchr1:36620139..36887088hg19UCSC Ensembl
Innerchr1:36392726..36659675hg18UCSC Ensembl
Innerchr1:36289232..36556181hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38266950
hg19266950
hg18266950
hg17266950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757729
SamplesNA12802
Known GenesEVA1B, LSM10, MAP7D1, OSCP1, SH3D21, STK40, THRAP3, TRAPPC3
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)esv2758931
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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