A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998639



Internal ID7064509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:86985681..86986771hg38UCSC Ensembl
Outerchr7:86614997..86616087hg19UCSC Ensembl
Outerchr7:86452933..86454023hg18UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg381091
hg191091
hg181091
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565765
SamplesHuRef
Known GenesKIAA1324L
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998639
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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