A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3581052



Internal ID7052434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100378666..100378998hg38UCSC Ensembl
chr14:100845003..100845335hg19UCSC Ensembl
chr14:99914756..99915088hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38333
hg19333
hg18333
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1006795
Supporting Variants
SamplesHuRef
Known GenesWDR25
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3581052
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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