A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724280



Internal ID10307916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42405924..42406350hg38UCSC Ensembl
Outerchr22:42801930..42802356hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38427
hg19427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6674961, essv6925513, essv6933093, essv6913802, essv6686015, essv6843701, essv6696826, essv6961200, essv6714061, essv6972076
SamplesSSM042, SSM028, SSM084, SSM018, SSM026, SSM031, SSM020, SSM015, SSM037, SSM034
Known GenesNFAM1
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)esv2724280
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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