A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990496



Internal ID7076627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:7087331..7099723hg38UCSC Ensembl
Outerchr1:7147391..7159783hg19UCSC Ensembl
Outerchr1:7069978..7082370hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3812393
hg1912393
hg1812393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563883
SamplesHuRef
Known GenesCAMTA1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990496
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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