A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998770



Internal ID7064523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102311202..102317058hg38UCSC Ensembl
Outerchr7:101954484..101957525hg19UCSC Ensembl
Outerchr7:101741204..101744245hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg383035
hg193035
hg183035
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563601
SamplesHuRef
Known GenesSH2B2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998770
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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