A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007608



Internal ID6719721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:99148627..99149633hg38UCSC Ensembl
Outerchr4:100069779..100070790hg19UCSC Ensembl
Outerchr4:100288802..100289813hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg381007
hg191012
hg181012
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565464
SamplesHuRef
Known GenesLOC100507053
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007608
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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