A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4444



Internal ID9626023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:55456601..55631765hg38UCSC Ensembl
Innerchr3:55490629..55665793hg19UCSC Ensembl
Innerchr3:55465669..55640833hg18UCSC Ensembl
Innerchr3:55465669..55640833hg17UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38175165
hg19175165
hg18175165
hg17175165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757871
Supporting Variants
SamplesNA18552
Known GenesERC2, WNT5A
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)essv4444
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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