A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6762830



Internal ID9822482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:107769899..107770573hg38UCSC Ensembl
Outerchr7:107410344..107411018hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38675
hg19675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734990, esv2734989
Supporting Variants
SamplesSSM062
Known GenesSLC26A3
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)essv6762830
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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