A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721480



Internal ID10305116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219066995..219067328hg38UCSC Ensembl
Outerchr2:219931717..219932050hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6875060, essv6838597, essv6926078, essv6953840, essv6853937, essv6951018, essv6807741, essv6942325, essv6946953, essv6828153, essv6938130, essv6762111, essv6922223, essv6810662, essv6793766, essv6917899, essv6797941, essv6847751, essv6892723
SamplesSSM071, SSM024, SSM075, SSM087, SSM002, SSM023, SSM092, SSM018, SSM062, SSM017, SSM019, SSM001, SSM086, SSM072, SSM076, SSM022, SSM025, SSM004, SSM098
Known Genes
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)esv2721480
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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