A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716075



Internal ID10299711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:57698961..57699175hg38UCSC Ensembl
Outerchr17:55776322..55776536hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6796769, essv6809913, essv6960464, essv6905570, essv6885544, essv6949832, essv6932639, essv6913328, essv6725199, essv6868021
SamplesSSM071, SSM024, SSM075, SSM045, SSM013, SSM026, SSM089, SSM020, SSM015, SSM095
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2716075
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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