A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6959626



Internal ID10062005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110160233..110160455hg38UCSC Ensembl
Outerchr13:110812580..110812802hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748000
Supporting Variants
SamplesSSM026
Known GenesCOL4A1
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)essv6959626
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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