A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564031



Internal ID6688414
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1006919
Supporting Variants
SamplesHuRef
Known GenesWBSCR17
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564031
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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