A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747296



Internal ID9981580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:41003090..41003719hg38UCSC Ensembl
Outerchr13:41577226..41577855hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38630
hg19630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6876780, essv6862561, essv6867343, essv6891404, essv6959512, essv6809494, essv6909562
SamplesSSM075, SSM097, SSM088, SSM002, SSM092, SSM026, SSM089
Known GenesELF1
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)esv2747296
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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