A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6801830



Internal ID10206675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:27101177..27101669hg38UCSC Ensembl
Outerchr2:27324045..27324537hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38493
hg19493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719833
Supporting Variants
SamplesSSM073
Known GenesCGREF1
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)essv6801830
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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