A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6948146



Internal ID9709289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:107823645..107824342hg38UCSC Ensembl
Outerchr7:107464090..107464787hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38698
hg19698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734992
Supporting Variants
SamplesSSM024
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)essv6948146
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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