A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716421



Internal ID10300057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81053830..81054315hg38UCSC Ensembl
Outerchr17:79027630..79028115hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38486
hg19486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6682268, essv6688874
SamplesSSM035, SSM033
Known GenesBAIAP2
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)esv2716421
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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