A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721728



Internal ID9956026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237547354..237547676hg38UCSC Ensembl
Outerchr2:238455997..238456319hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6833025, essv6785520, essv6946983
SamplesSSM082, SSM024, SSM069
Known GenesMLPH
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)esv2721728
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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