A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003608



Internal ID7068713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:40784107..40790625hg38UCSC Ensembl
Outerchr6:40751846..40758364hg19UCSC Ensembl
Outerchr6:40859824..40866342hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg386519
hg196519
hg186519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565791
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003608
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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