A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759061



Internal ID9634520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74252797..74535298hg38UCSC Ensembl
Innerchr2:74479924..74762425hg19UCSC Ensembl
Innerchr2:74333432..74615933hg18UCSC Ensembl
Innerchr2:74391579..74674080hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38282502
hg19282502
hg18282502
hg17282502
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757807
SamplesNA19142, NA18861, NA18871, NA19209, NA18500, NA10847, NA18855, NA18505, NA19208, NA19143, NA18508, NA18854, NA18563, NA18609, NA18970, NA12239, NA18620, NA18968, NA19102, NA18558, NA18858, NA18940, NA19128, NA19205, NA18852, NA19160, NA18853, NA19200, NA19202
Known GenesAUP1, C2orf81, CCDC142, DCTN1, DCTN1-AS1, DQX1, HTRA2, INO80B, INO80B-WBP1, LBX2, LBX2-AS1, LOXL3, MOGS, MRPL53, PCGF1, RTKN, SLC4A5, TLX2, TTC31, WBP1, WDR54
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)esv2759061
Frequency
Sample Size270
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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