A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564592



Internal ID7035692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:182300523..182305180hg38UCSC Ensembl
Outerchr1:182269658..182274315hg19UCSC Ensembl
Outerchr1:180536281..180540938hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg383417
hg193417
hg183417
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007138
Supporting Variants
SamplesHuRef
Known GenesLOC400799
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564592
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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