A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565798



Internal ID6690494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:126460791..126461341hg38UCSC Ensembl
Outerchr3:126179634..126180184hg19UCSC Ensembl
Outerchr3:127662324..127662874hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg382483
hg192483
hg182483
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv993756
Supporting Variants
SamplesHuRef
Known GenesZXDC
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565798
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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