A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716257



Internal ID9950545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76627883..76633463hg38UCSC Ensembl
Outerchr17:74623965..74629545hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg385581
hg195581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6763833, essv6665893
SamplesSSM062, SSM029
Known GenesST6GALNAC1
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)esv2716257
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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