A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716314



Internal ID10299950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78508913..78509246hg38UCSC Ensembl
Outerchr17:76504995..76505328hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6764486, essv6852347, essv6839361, essv6966984, essv6820523, essv6936969, essv6898162, essv6905588, essv6729022, essv6868051, essv6725218
SamplesSSM083, SSM027, SSM045, SSM046, SSM013, SSM021, SSM089, SSM001, SSM086, SSM078, SSM099
Known GenesDNAH17
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)esv2716314
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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