A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747198



Internal ID10328168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29317443..29317761hg38UCSC Ensembl
Outerchr13:29891580..29891898hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6695703, essv6862548, essv6867324, essv6977468, essv6908992, essv6891392, essv6879579, essv6959490, essv6819855, essv6857419, essv6677953, essv6888091, essv6827860, essv6900724, essv6966014, essv6851415, essv6673362, essv6688393
SamplesSSM100, SSM027, SSM087, SSM097, SSM093, SSM088, SSM029, SSM096, SSM026, SSM089, SSM035, SSM032, SSM031, SSM014, SSM086, SSM078, SSM080, SSM037
Known GenesMTUS2
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)esv2747198
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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