A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23869



Internal ID9622412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51588483..51763447hg38UCSC Ensembl
Innerchr19:52091736..52266700hg19UCSC Ensembl
Innerchr19:56783548..56958512hg18UCSC Ensembl
Innerchr19:56783548..56958512hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38174965
hg19174965
hg18174965
hg17174965
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758504
Supporting Variants
SamplesNA12814
Known GenesFLJ30403, FPR1, FPR2, HAS1, MIR125A, MIR99B, MIRLET7E, SIGLEC14, SIGLEC5, SPACA6P, SPACA6P-AS, ZNF175
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)essv23869
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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