A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1174249



Internal ID11990686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37187220..37187532hg38UCSC Ensembl
chr20:35815623..35815935hg19UCSC Ensembl
chr20:35249037..35249349hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38313
hg19313
hg18313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3813070
SamplesHuRef
Known GenesRPN2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1174249
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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