A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715491



Internal ID10299127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:2153397..2154035hg38UCSC Ensembl
Outerchr17:2056691..2057329hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38639
hg19639
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828346, essv6909475, essv6863143, essv6706782, essv6776315, essv6885499, essv6879936, essv6692137, essv6944106, essv6743188, essv6728928, essv6871509, essv6924958, essv6916738, essv6800925
SamplesSSM036, SSM046, SSM011, SSM093, SSM088, SSM018, SSM003, SSM014, SSM066, SSM040, SSM072, SSM007, SSM016, SSM080, SSM095
Known GenesSMG6
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)esv2715491
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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