A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716250



Internal ID9950538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76283637..76284750hg38UCSC Ensembl
Outerchr17:74279718..74280831hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381114
hg191114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6912952, essv6758688, essv6920982
SamplesSSM017, SSM002, SSM059
Known GenesQRICH2
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)esv2716250
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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