A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6790830



Internal ID10196652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:78505731..78506114hg38UCSC Ensembl
Outerchr7:78135048..78135431hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734713, esv2734712
Supporting Variants
SamplesSSM070
Known GenesMAGI2
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)essv6790830
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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