A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6864384



Internal ID9914742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:95855884..97511695hg38UCSC Ensembl
Outerchr2:96521632..98128158hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg381655812
hg191606527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720400
Supporting Variants
SamplesSSM089
Known GenesADRA2B, ANKRD23, ANKRD36, ANKRD36B, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM4, DUSP2, FAHD2B, FAHD2CP, FAM178B, FER1L5, GPAT2, ITPRIPL1, KANSL3, LMAN2L, LOC100506076, LOC100506123, MIR3127, NCAPH, NEURL3, SEMA4C, SNRNP200, STARD7, STARD7-AS1, TMEM127
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)essv6864384
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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