A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6767748



Internal ID9828178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:57120049..57120213hg38UCSC Ensembl
Outerchr7:57187756..57187920hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734468, esv2734476
Supporting Variants
SamplesSSM064
Known GenesZNF479
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)essv6767748
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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