A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6866024



Internal ID10262903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:137149730..137149983hg38UCSC Ensembl
Outerchr7:136834477..136834730hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735203
Supporting Variants
SamplesSSM089
Known GenesLOC349160
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)essv6866024
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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