A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564128



Internal ID7035228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:39355568..39362933hg38UCSC Ensembl
Outerchr13:39929705..39937070hg19UCSC Ensembl
Outerchr13:38827705..38835070hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg387366
hg197366
hg187366
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996813
Supporting Variants
SamplesHuRef
Known GenesLHFP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564128
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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