A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6783714



Internal ID10187175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:44141998..44142433hg38UCSC Ensembl
Outerchr13:44716134..44716569hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38436
hg19436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747331
Supporting Variants
SamplesSSM068
Known GenesSMIM2-AS1
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)essv6783714
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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