A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731358



Internal ID9965675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:541260..541855hg38UCSC Ensembl
Outerchr6:541260..541855hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38596
hg19596
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6704891, essv6860683, essv6774517, essv6911209, essv6794538, essv6934588, essv6963541, essv6770683, essv6782073, essv6683906
SamplesSSM065, SSM027, SSM040, SSM088, SSM071, SSM066, SSM021, SSM034, SSM068, SSM015
Known GenesEXOC2
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)esv2731358
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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