A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6707661



Internal ID10120236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:214864026..214866099hg38UCSC Ensembl
Outerchr2:215728750..215730823hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382074
hg192074
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721446
Supporting Variants
SamplesSSM041
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)essv6707661
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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