A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6708694



Internal ID10122182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:93912515..93913213hg38UCSC Ensembl
Outerchr7:93541827..93542525hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38699
hg19699
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734826, esv2734827
Supporting Variants
SamplesSSM041
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)essv6708694
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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