A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758506



Internal ID9980583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:52907206..53149322hg38UCSC Ensembl
Innerchr19:53410459..53652575hg19UCSC Ensembl
Innerchr19:58102271..58344387hg18UCSC Ensembl
Innerchr19:58102271..58344387hg17UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38242117
hg19242117
hg18242117
hg17242117
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758769
Supporting Variantsessv24883, essv12256, essv9736, essv20011, essv19552, essv13685
SamplesNA19119, NA07048, NA19101, NA12864, NA18913, NA07000
Known GenesERVV-1, ERVV-2, ZNF160, ZNF321P, ZNF347, ZNF415, ZNF702P, ZNF816, ZNF816-ZNF321P
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)esv2758506
Frequency
Sample Size270
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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