A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8807



Internal ID9630870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74252797..74344142hg38UCSC Ensembl
Innerchr2:74479924..74571269hg19UCSC Ensembl
Innerchr2:74333432..74424777hg18UCSC Ensembl
Innerchr2:74391579..74482924hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3891346
hg1991346
hg1891346
hg1791346
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757807
Supporting Variants
SamplesNA18508
Known GenesSLC4A5
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)essv8807
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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