A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3578375



Internal ID6703071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:134449369..134449369hg38UCSC Ensembl
chr6:134770507..134770507hg19UCSC Ensembl
chr6:134812200..134812200hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005098
Supporting Variants
SamplesHuRef
Known GenesLINC01010
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3578375
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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