A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6668550



Internal ID10083849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41087444..41107322hg38UCSC Ensembl
Outerchr17:39243696..39263574hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3819879
hg1919879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715915
Supporting Variants
SamplesSSM030
Known GenesKRTAP4-8, KRTAP4-9
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)essv6668550
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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