A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2505



Internal ID9972333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:131036997..131186099hg38UCSC Ensembl
Innerchr7:130721756..130870858hg19UCSC Ensembl
Innerchr7:130372296..130521398hg18UCSC Ensembl
Innerchr7:130179011..130328113hg17UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38149103
hg19149103
hg18149103
hg17149103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758133
Supporting Variants
SamplesNA19003
Known GenesLINC-PINT, MKLN1
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)essv2505
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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