A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002396



Internal ID7067512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109810013..109813021hg38UCSC Ensembl
Outerchr1:110352635..110355643hg19UCSC Ensembl
Outerchr1:110154158..110157166hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383009
hg193009
hg183009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564925
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002396
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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