A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716199



Internal ID9950487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:73539800..73540200hg38UCSC Ensembl
Outerchr17:71535939..71536339hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784334, essv6729012, essv6832005, essv6812735, essv6780178
SamplesSSM067, SSM046, SSM068, SSM076, SSM081
Known GenesSDK2
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)esv2716199
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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