A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6719784



Internal ID10131721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:137770553..137770915hg38UCSC Ensembl
Outerchr7:137455299..137455661hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735210
Supporting Variants
SamplesSSM044
Known GenesDGKI
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)essv6719784
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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