A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8164



Internal ID9630156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72862179..73274886hg38UCSC Ensembl
Innerchr7:72332743..72688930hg19UCSC Ensembl
Innerchr7:71970679..72326866hg18UCSC Ensembl
Innerchr7:71777394..72133581hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38412708
hg19356188
hg18356188
hg17356188
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758612
Supporting Variants
SamplesNA19206
Known GenesGTF2IP1, LOC100093631, LOC100101148, LOC541473, NCF1B, NSUN5P2, PMS2L2, PMS2P5, POM121, SPDYE7P, SPDYE8P, STAG3L1, STAG3L3, TRIM73, TRIM74
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)essv8164
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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