A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6790850



Internal ID9848737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100972215..100972383hg38UCSC Ensembl
Outerchr7:100615496..100615664hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734907, esv2734888
Supporting Variants
SamplesSSM070
Known GenesMUC12
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)essv6790850
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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