A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6731246



Internal ID9794917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:149557626..149598957hg38UCSC Ensembl
Outerchr7:149254717..149296048hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3841332
hg1941332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735331, esv2735330
Supporting Variants
SamplesSSM047
Known GenesZNF767
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)essv6731246
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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