A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6678509



Internal ID10093299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41083292..41104547hg38UCSC Ensembl
Outerchr17:39239544..39260799hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3821256
hg1921256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715915
Supporting Variants
SamplesSSM032
Known GenesKRTAP4-7, KRTAP4-8
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)essv6678509
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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