A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721965



Internal ID10305601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241010941..241011381hg38UCSC Ensembl
Outerchr2:241950358..241950798hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38441
hg19441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6947002, essv6899012, essv6697345, essv6773904, essv6807768, essv6785544, essv6914400, essv6896189, essv6929621, essv6962365
SamplesSSM100, SSM027, SSM024, SSM075, SSM038, SSM069, SSM066, SSM020, SSM016, SSM099
Known GenesSNED1
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)esv2721965
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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