A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3585175



Internal ID6709871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5076189..5076250hg38UCSC Ensembl
chr19:5076200..5076261hg19UCSC Ensembl
chr19:5027200..5027261hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001351
Supporting Variants
SamplesHuRef
Known GenesKDM4B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3585175
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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