A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6837780



Internal ID10237671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:137149721..137150012hg38UCSC Ensembl
Outerchr7:136834468..136834759hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735203
Supporting Variants
SamplesSSM083
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)essv6837780
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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