A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6925947



Internal ID10035436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:27101424..27101619hg38UCSC Ensembl
Outerchr2:27324292..27324487hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719833
Supporting Variants
SamplesSSM019
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)essv6925947
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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