A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998294



Internal ID6734234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:44122163..44132378hg38UCSC Ensembl
Outerchr7:44161762..44171977hg19UCSC Ensembl
Outerchr7:44128287..44138502hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3810216
hg1910216
hg1810216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564722
SamplesHuRef
Known GenesPOLD2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998294
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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