A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719425



Internal ID10303061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:2716222..2717252hg38UCSC Ensembl
Outerchr2:2719994..2721024hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381031
hg191031
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933580, essv6929345, essv6972793, essv6733659, essv6874911, essv6818676, essv6750791, essv6739045, essv6961949, essv6955158, essv6968220, essv6750775, essv6747978, essv6910313, essv6816881, essv6679436, essv6756719, essv6729708
SamplesSSM059, SSM008, SSM027, SSM057, SSM028, SSM092, SSM021, SSM029, SSM026, SSM001, SSM033, SSM020, SSM015, SSM078, SSM010, SSM052, SSM049, SSM056
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)esv2719425
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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