A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3572595



Internal ID6697291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74791323..74791323hg38UCSC Ensembl
chr17:72787462..72787462hg19UCSC Ensembl
chr17:70299057..70299057hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38128
hg19128
hg18128
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000943
Supporting Variants
SamplesHuRef
Known GenesTMEM104
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3572595
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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