A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6263



Internal ID9628044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100962999..101105965hg38UCSC Ensembl
Innerchr7:100606044..100749246hg19UCSC Ensembl
Innerchr7:100392764..100535966hg18UCSC Ensembl
Innerchr7:100199479..100342681hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38142967
hg19143203
hg18143203
hg17143203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758125
Supporting Variants
SamplesNA18636
Known GenesMUC12, MUC17, TRIM56
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)essv6263
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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