A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734053



Internal ID3284549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:16232356..16235258hg38UCSC Ensembl
Outerchr7:16271981..16274883hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg382903
hg192903
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6684176
SamplesSSM034
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)esv2734053
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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