A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4808



Internal ID9626427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:16233197..16487765hg38UCSC Ensembl
Innerchr7:16272822..16527390hg19UCSC Ensembl
Innerchr7:16239347..16493915hg18UCSC Ensembl
Innerchr7:16046062..16300630hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38254569
hg19254569
hg18254569
hg17254569
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758105
Supporting Variants
SamplesNA18620
Known GenesISPD, ISPD-AS1, SOSTDC1
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)essv4808
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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