A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992225



Internal ID7077899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6067578..6067578hg38UCSC Ensembl
chr4:6069305..6069305hg19UCSC Ensembl
chr4:6120206..6120206hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38101
hg19101
hg18101
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3577192
SamplesHuRef
Known GenesJAKMIP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992225
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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