A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734052



Internal ID3284548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:16230300..16230966hg38UCSC Ensembl
Outerchr7:16269925..16270591hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg38667
hg19667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849444, essv6694419
SamplesSSM086, SSM037
Known GenesISPD, ISPD-AS1
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)esv2734052
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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