A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747282



Internal ID9981566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:38702374..38702900hg38UCSC Ensembl
Outerchr13:39276511..39277037hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38527
hg19527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6932000, essv6713127, essv6741200, essv6787895, essv6842583, essv6783703, essv6940274
SamplesSSM042, SSM084, SSM069, SSM003, SSM068, SSM020, SSM052
Known GenesFREM2
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)esv2747282
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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