A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6778430



Internal ID10184069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:29631037..29743947hg38UCSC Ensembl
Outerchr7:29670653..29783563hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38112911
hg19112911
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734186
Supporting Variants
SamplesSSM067
Known GenesDPY19L2P3, LOC646762, MIR550A3, ZNRF2P2
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)essv6778430
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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