A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8228



Internal ID9630227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:62506780..63595136hg38UCSC Ensembl
Innerchr7:61967158..63055514hg19UCSC Ensembl
Innerchr7:61604593..62692949hg18UCSC Ensembl
Innerchr7:61411308..62499664hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg381088357
hg191088357
hg181088357
hg171088357
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758116
Supporting Variants
SamplesNA19116
Known GenesLOC100287704, LOC100287834, ZNF733P
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)essv8228
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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