A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6732801



Internal ID9796880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:4933646..4934111hg38UCSC Ensembl
Outerchr17:4836941..4837406hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715560
Supporting Variants
SamplesSSM047
Known GenesGP1BA
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)essv6732801
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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