A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1180297



Internal ID11996735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43583148..43583652hg38UCSC Ensembl
chr21:45003029..45003533hg19UCSC Ensembl
chr21:43827457..43827961hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38505
hg19505
hg18505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4265024
SamplesHuRef
Known GenesHSF2BP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1180297
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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