A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6847512



Internal ID9899556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:54956102..54956468hg38UCSC Ensembl
Outerchr2:55183239..55183605hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38367
hg19367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720083, esv2720078
Supporting Variants
SamplesSSM086
Known GenesEML6
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)essv6847512
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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