A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721554



Internal ID9955850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:227325433..227329594hg38UCSC Ensembl
Outerchr2:228190149..228194310hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg384162
hg194162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6844153, essv6883591, essv6777381
SamplesSSM067, SSM001, SSM095
Known GenesMFF
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)esv2721554
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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