A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734048



Internal ID9968373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:16088848..16089210hg38UCSC Ensembl
Outerchr7:16128473..16128835hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6805608, essv6901785
SamplesSSM074, SSM002
Known GenesISPD
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)esv2734048
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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