A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721678



Internal ID10305314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:234979790..234979884hg38UCSC Ensembl
Outerchr2:235888434..235888528hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847782
SamplesSSM086
Known GenesSH3BP4
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)esv2721678
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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