A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727009



Internal ID10310645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:6879622..6879913hg38UCSC Ensembl
Outerchr4:6881349..6881640hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6938420, essv6942671, essv6789913, essv6785797, essv6929865, essv6821874
SamplesSSM079, SSM023, SSM069, SSM020, SSM022, SSM070
Known GenesKIAA0232
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)esv2727009
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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