A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720772



Internal ID10304408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130693046..130693340hg38UCSC Ensembl
Outerchr2:131450619..131450913hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6679552, essv6804714, essv6950954, essv6824487, essv6764423, essv6832946, essv6756808, essv6819520, essv6933725, essv6733747, essv6789573, essv6729990, essv6736272
SamplesSSM059, SSM050, SSM074, SSM002, SSM021, SSM047, SSM033, SSM082, SSM010, SSM070, SSM025, SSM049, SSM063
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)esv2720772
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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