A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004696



Internal ID7069792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:154656313..154664191hg38UCSC Ensembl
Outerchr7:154448023..154455901hg19UCSC Ensembl
Outerchr7:154078956..154086834hg18UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg387879
hg197879
hg187879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565157
SamplesHuRef
Known GenesDPP6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004696
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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