A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16157



Internal ID9973189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7261478..7454270hg38UCSC Ensembl
Innerchr7:7301109..7493901hg19UCSC Ensembl
Innerchr7:7267634..7460426hg18UCSC Ensembl
Innerchr7:7074349..7267141hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38192793
hg19192793
hg18192793
hg17192793
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758102
Supporting Variants
SamplesNA19100
Known GenesCOL28A1, LOC101927354
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)essv16157
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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