A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731968



Internal ID10315604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:40446594..40447117hg38UCSC Ensembl
Outerchr6:40414333..40414856hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6928673, essv6667568, essv6701089, essv6849139, essv6782227, essv6957014, essv6774600, essv6719443, essv6690469, essv6826419, essv6715534, essv6676581, essv6798873, essv6767549, essv6790520, essv6855233, essv6923083, essv6969383, essv6947805, essv6974786
SamplesSSM036, SSM024, SSM064, SSM087, SSM039, SSM028, SSM018, SSM029, SSM026, SSM032, SSM003, SSM044, SSM086, SSM066, SSM068, SSM072, SSM080, SSM070, SSM043, SSM030
Known GenesLRFN2
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)esv2731968
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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