A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749883



Internal ID9984167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:74794151..74794324hg38UCSC Ensembl
Outerchr15:75086492..75086665hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6909297, essv6857888, essv6862916
SamplesSSM087, SSM088, SSM014
Known GenesCSK
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)esv2749883
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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