A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19694



Internal ID9617773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:10443564..10642899hg38UCSC Ensembl
Innerchr6:10443797..10643132hg19UCSC Ensembl
Innerchr6:10551783..10751118hg18UCSC Ensembl
Innerchr6:10551783..10751118hg17UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg38199336
hg19199336
hg18199336
hg17199336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758035
Supporting Variants
SamplesNA12264
Known GenesGCNT2
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)essv19694
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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