A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747265



Internal ID9981549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:36232575..36232736hg38UCSC Ensembl
Outerchr13:36806712..36806873hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6812319, essv6851426, essv6688077, essv6673378, essv6879583, essv6728465, essv6688400, essv6857429, essv6977481, essv6931994, essv6894778, essv6809489, essv6867337
SamplesSSM075, SSM046, SSM087, SSM093, SSM029, SSM089, SSM035, SSM031, SSM086, SSM020, SSM005, SSM076, SSM098
Known GenesCCDC169, CCDC169-SOHLH2
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)esv2747265
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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