A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6909562



Internal ID9638619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:41003104..41003719hg38UCSC Ensembl
Outerchr13:41577240..41577855hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38616
hg19616
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747296
Supporting Variants
SamplesSSM002
Known GenesELF1
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)essv6909562
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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