A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1920



Internal ID9617225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100757867..101105965hg38UCSC Ensembl
Innerchr7:100355490..100749246hg19UCSC Ensembl
Innerchr7:100193426..100535966hg18UCSC Ensembl
Innerchr7:100000141..100342681hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38348099
hg19393757
hg18342541
hg17342541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758125
Supporting Variants
SamplesNA18959
Known GenesACHE, EPHB4, MIR6875, MUC12, MUC17, SLC12A9, SRRT, TRIM56, TRIP6, UFSP1, ZAN
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)essv1920
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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