A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726750



Internal ID9961058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1092750..1093314hg38UCSC Ensembl
Outerchr4:1086538..1087102hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38565
hg19565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6848166, essv6770236, essv6922852, essv6693557, essv6918168, essv6785774, essv6968714, essv6854326, essv6962698, essv6755043, essv6774101, essv6926292, essv6910750, essv6922495
SamplesSSM008, SSM027, SSM065, SSM087, SSM028, SSM018, SSM069, SSM017, SSM019, SSM003, SSM086, SSM066, SSM015, SSM037
Known GenesRNF212
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)esv2726750
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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