A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6667081



Internal ID9737496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:97196683..97205392hg38UCSC Ensembl
Outerchr2:97862420..97871129hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg388710
hg198710
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720400, esv2720418, esv2720404
Supporting Variants
SamplesSSM030
Known GenesANKRD36
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)essv6667081
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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