A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6864395



Internal ID9914752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:106245437..107913028hg38UCSC Ensembl
Outerchr2:106861893..108529484hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg381667592
hg191667592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720482
Supporting Variants
SamplesSSM089
Known GenesPLGLA, RGPD3, RGPD4, RGPD4-AS1, ST6GAL2
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)essv6864395
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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