A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6888544



Internal ID9936662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41140111..41149684hg38UCSC Ensembl
Outerchr17:39296363..39305936hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg389574
hg199574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715916
Supporting Variants
SamplesSSM096
Known GenesKRTAP4-5, KRTAP4-6
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)essv6888544
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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