A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732604



Internal ID10316240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:116299340..116299736hg38UCSC Ensembl
Outerchr6:116620503..116620899hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38397
hg19397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6786477, essv6939104
SamplesSSM069, SSM022
Known GenesDSE
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)esv2732604
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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