A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6858304



Internal ID9909272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75558889..75559003hg38UCSC Ensembl
Outerchr17:73554970..73555084hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716242, esv2716245, esv2716243, esv2716241
Supporting Variants
SamplesSSM087
Known GenesLLGL2
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)essv6858304
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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