A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6741200



Internal ID9802026
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 StatusS
Merged Variantsesv2747282
Supporting Variants
SamplesSSM052
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)essv6741200
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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