A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720402



Internal ID10304038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:95918771..95920809hg38UCSC Ensembl
Outerchr2:96584519..96586557hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg382039
hg192039
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669523, essv6807634, essv6896090, essv6938035, essv6874976, essv6726189, essv6745192, essv6868982, essv6819265, essv6953006, essv6942199, essv6697232, essv6880667, essv6925990, essv6787442, essv6721388
SamplesSSM075, SSM046, SSM038, SSM009, SSM023, SSM092, SSM090, SSM019, SSM094, SSM031, SSM007, SSM022, SSM010, SSM055, SSM004, SSM099
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)esv2720402
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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