A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715920



Internal ID9950207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41167876..41167987hg38UCSC Ensembl
Outerchr17:39324128..39324239hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6852275, essv6674269
SamplesSSM031, SSM086
Known GenesKRTAP4-3
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)esv2715920
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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