A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719616



Internal ID10303252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:8860210..8860500hg38UCSC Ensembl
Outerchr2:9000340..9000630hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6693075, essv6718424
SamplesSSM044, SSM037
Known GenesMBOAT2
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)esv2719616
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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