A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715546



Internal ID10299182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:4086088..4086528hg38UCSC Ensembl
Outerchr17:3989382..3989822hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38441
hg19441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6788445, essv6852208, essv6944139, essv6768992
SamplesSSM064, SSM069, SSM003, SSM086
Known GenesZZEF1
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)esv2715546
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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