A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6750915



Internal ID9814580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:165483658..165485268hg38UCSC Ensembl
Outerchr2:166340168..166341778hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381611
hg191611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721070
Supporting Variants
SamplesSSM057
Known GenesCSRNP3
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)essv6750915
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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