A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988531



Internal ID6724502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:17562916..17573454hg38UCSC Ensembl
Outerchr1:17889411..17899949hg19UCSC Ensembl
Outerchr1:17761998..17772536hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3810539
hg1910539
hg1810539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563476
SamplesHuRef
Known GenesARHGEF10L
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988531
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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