A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721746



Internal ID10305382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238098319..238098913hg38UCSC Ensembl
Outerchr2:239006960..239007554hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38595
hg19595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6973259, essv6840446, essv6770015
SamplesSSM065, SSM084, SSM029
Known GenesSCLY, UBE2F-SCLY
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)esv2721746
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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