A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996321



Internal ID6732265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77487583..77487751hg38UCSC Ensembl
chr17:75483665..75483833hg19UCSC Ensembl
chr17:72995260..72995428hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38169
hg19169
hg18169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3573448
SamplesHuRef
Known GenesSEPT9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996321
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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