A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6920451



Internal ID9987048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:172283238..172283358hg38UCSC Ensembl
Outerchr2:173147966..173148086hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721138, esv2721141
Supporting Variants
SamplesSSM003
Known Genes
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)essv6920451
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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