A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6955154



Internal ID10064010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:2307619..2308062hg38UCSC Ensembl
Outerchr2:2311391..2311834hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719407
Supporting Variants
SamplesSSM026
Known GenesMYT1L
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)essv6955154
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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