A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721455



Internal ID10305091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:216108950..216109414hg38UCSC Ensembl
Outerchr2:216973673..216974137hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38465
hg19465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6781362, essv6917897, essv6933786, essv6880653, essv6711018, essv6955532, essv6683222, essv6910510, essv6766861, essv6793762, essv6929571, essv6700111
SamplesSSM071, SSM064, SSM039, SSM042, SSM021, SSM026, SSM017, SSM068, SSM020, SSM015, SSM034, SSM012
Known GenesXRCC5
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)esv2721455
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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