A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007138



Internal ID7072231
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564592
SamplesHuRef
Known GenesLOC400799
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007138
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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