A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6801963



Internal ID9860108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:230343099..230343666hg38UCSC Ensembl
Outerchr2:231207814..231208381hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38568
hg19568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721596, esv2721594
Supporting Variants
SamplesSSM073
Known GenesSP140L
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)essv6801963
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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