A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743685



Internal ID10324655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10576552..10583993hg38UCSC Ensembl
Outerchr1:10636609..10644050hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg387442
hg197442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6892313, essv6832592, essv6821174, essv6666889, essv6679160, essv6874696, essv6916640, essv6669155, essv6902524, essv6853226, essv6883252, essv6839962, essv6748276, essv6863948, essv6689252, essv6859178, essv6898606, essv6773433, essv6925683
SamplesSSM100, SSM036, SSM008, SSM079, SSM087, SSM013, SSM088, SSM092, SSM084, SSM089, SSM019, SSM003, SSM033, SSM066, SSM082, SSM005, SSM095, SSM098, SSM030
Known GenesPEX14
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)esv2743685
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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