A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3573448



Internal ID6698144
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 StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996321
Supporting Variants
SamplesHuRef
Known GenesSEPT9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3573448
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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