A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565226



Internal ID7036608
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1002272
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565226
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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