A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6953040



Internal ID9644818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:96472665..96793450hg38UCSC Ensembl
Outerchr2:97138402..97459187hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38320786
hg19320786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720400, esv2720413, esv2720404
Supporting Variants
SamplesSSM004
Known GenesARID5A, CNNM4, FER1L5, KANSL3, LMAN2L, NEURL3
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)essv6953040
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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