A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989371



Internal ID6725341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:44915394..44922889hg38UCSC Ensembl
Outerchr17:42992762..43000257hg19UCSC Ensembl
Outerchr17:40348288..40355783hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg387496
hg197496
hg187496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564512
SamplesHuRef
Known GenesGFAP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989371
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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