A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3570521



Internal ID6695217
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv994039
Supporting Variants
SamplesHuRef
Known GenesIGSF21
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3570521
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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