A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9738518



Internal ID18712706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:55477050..55477530hg38UCSC Ensembl
Outerchr6:55476928..55477567hg38UCSC Ensembl
Innerchr6:55341848..55342328hg19UCSC Ensembl
Outerchr6:55341726..55342365hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38640
hg19640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3539771
Supporting Variants
Samples
Known GenesHMGCLL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9738518
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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