A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4165388



Internal ID11447926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125458893..125458893hg38UCSC Ensembl
chr9:128221172..128221172hg19UCSC Ensembl
chr9:127260993..127260993hg18UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38208
hg19208
hg18208
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1597155
Supporting Variants
SamplesHuRef
Known GenesMAPKAP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4165388
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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