A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6864572



Internal ID10261598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239930859..239930913hg38UCSC Ensembl
Outerchr2:240870276..240870330hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721885, esv2721882
Supporting Variants
SamplesSSM089
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)essv6864572
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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