A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999906



Internal ID7082514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:109263566..109266857hg38UCSC Ensembl
Outerchr6:109584769..109588060hg19UCSC Ensembl
Outerchr6:109691462..109694753hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg383292
hg193292
hg183292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565056
SamplesHuRef
Known GenesLOC100996634
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999906
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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