A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734137



Internal ID10317773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:24774050..24774457hg38UCSC Ensembl
Outerchr7:24813669..24814076hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6805620, essv6794883, essv6915256, essv6943688, essv6790744, essv6927014, essv6701330, essv6694428, essv6930607, essv6762820
SamplesSSM008, SSM071, SSM039, SSM074, SSM023, SSM019, SSM003, SSM016, SSM037, SSM070
Known Genes
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)esv2734137
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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