A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564707



Internal ID7035807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:108188819..108188981hg38UCSC Ensembl
Outerchr7:107829263..107829425hg19UCSC Ensembl
Outerchr7:107616499..107616661hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg386778
hg196778
hg186778
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1008394
Supporting Variants
SamplesHuRef
Known GenesNRCAM
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564707
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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