A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6827866



Internal ID10228561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:34555749..34555875hg38UCSC Ensembl
Outerchr13:35129886..35130012hg19UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747255
Supporting Variants
SamplesSSM080
Known GenesLINC00457
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)essv6827866
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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