A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1551786



Internal ID12368221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:3977280..3977280hg38UCSC Ensembl
chr7:4016912..4016912hg19UCSC Ensembl
chr7:3983438..3983438hg18UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3988382
SamplesHuRef
Known GenesSDK1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1551786
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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