A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6642



Internal ID9628465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160351866..160658766hg38UCSC Ensembl
Innerchr6:160772898..161079798hg19UCSC Ensembl
Innerchr6:160692888..160999788hg18UCSC Ensembl
Innerchr6:160743309..161050209hg17UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38306901
hg19306901
hg18306901
hg17306901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758089
Supporting Variants
SamplesNA18621
Known GenesLPA, LPAL2, SLC22A3
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)essv6642
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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