A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994039



Internal ID6729994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18330588..18330683hg38UCSC Ensembl
chr1:18657082..18657177hg19UCSC Ensembl
chr1:18529669..18529764hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3896
hg1996
hg1896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3570521
SamplesHuRef
Known GenesIGSF21
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994039
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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