A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719726



Internal ID10303362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:15481013..15481948hg38UCSC Ensembl
Outerchr2:15621137..15622072hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38936
hg19936
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6720877, essv6697543, essv6750805, essv6929377, essv6868929, essv6925940, essv6910341
SamplesSSM057, SSM090, SSM019, SSM006, SSM020, SSM007, SSM015
Known GenesNBAS
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)esv2719726
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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