A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3567708



Internal ID18768784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:42160965..42162190hg38UCSC Ensembl
Outerchr6:42160956..42162226hg38UCSC Ensembl
Innerchr6:42128703..42129928hg19UCSC Ensembl
Outerchr6:42128694..42129964hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381271
hg191271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9766455
Samples
Known GenesGUCA1A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3567708
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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