A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748342



Internal ID10329312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113600258..113600997hg38UCSC Ensembl
Outerchr13:114254573..114255312hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38740
hg19740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6940588, essv6783808, essv6706423, essv6928125, essv6800472, essv6932115, essv6752739, essv6888181, essv6788018, essv6857589, essv6768682, essv6862672, essv6732362, essv6835097, essv6728558
SamplesSSM046, SSM064, SSM087, SSM088, SSM057, SSM047, SSM069, SSM096, SSM019, SSM068, SSM040, SSM072, SSM082, SSM020, SSM022
Known GenesTFDP1
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)esv2748342
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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