A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995660



Internal ID7063286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:31550185..31552381hg38UCSC Ensembl
Outerchr7:31589799..31591995hg19UCSC Ensembl
Outerchr7:31556324..31558520hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg382197
hg192197
hg182197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565292
SamplesHuRef
Known GenesCCDC129
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995660
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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