A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6836265



Internal ID10006083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:95196390..95196913hg38UCSC Ensembl
Outerchr13:95848644..95849167hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747844
Supporting Variants
SamplesSSM010
Known GenesABCC4
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)essv6836265
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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