A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3204242



Internal ID11223909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7852396..7852448hg38UCSC Ensembl
chr17:7755714..7755766hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7473809
SamplesHuRef
Known GenesKDM6B
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3204242
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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