A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6838822



Internal ID10238609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110355674..110355821hg38UCSC Ensembl
Outerchr13:111008021..111008168hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748005
Supporting Variants
SamplesSSM083
Known GenesCOL4A2
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)essv6838822
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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