A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564672



Internal ID6689368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:112575469..112581602hg38UCSC Ensembl
Outerchr4:113496625..113502758hg19UCSC Ensembl
Outerchr4:113716074..113722207hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg386134
hg196134
hg186134
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001738
Supporting Variants
SamplesHuRef
Known GenesC4orf21
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564672
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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