A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1006919



Internal ID6719034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:71679788..71681283hg38UCSC Ensembl
Outerchr7:71144773..71146268hg19UCSC Ensembl
Outerchr7:70782709..70784204hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg383501
hg193501
hg183501
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564031
SamplesHuRef
Known GenesWBSCR17
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1006919
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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