A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6679480



Internal ID9749144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:48554724..48557713hg38UCSC Ensembl
Outerchr2:48781863..48784852hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg382990
hg192990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720033
Supporting Variants
SamplesSSM033
Known GenesSTON1, STON1-GTF2A1L
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)essv6679480
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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