A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2434



Internal ID9622936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:77432279..77573325hg38UCSC Ensembl
Innerchr6:78141996..78283042hg19UCSC Ensembl
Innerchr6:78198715..78339761hg18UCSC Ensembl
Innerchr6:78198715..78339761hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38141047
hg19141047
hg18141047
hg17141047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758062
Supporting Variants
SamplesNA18999
Known GenesHTR1B
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)essv2434
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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