A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002272



Internal ID7067388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:209904298..209919944hg38UCSC Ensembl
Outerchr1:210077643..210093289hg19UCSC Ensembl
Outerchr1:208144266..208159912hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3815647
hg1915647
hg1815647
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565226
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002272
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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