A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3577192



Internal ID7048574
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 StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv992225
Supporting Variants
SamplesHuRef
Known GenesJAKMIP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3577192
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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