A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6943870



Internal ID10052449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148330392..148330944hg38UCSC Ensembl
Outerchr7:148027484..148028036hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38553
hg19553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735315
Supporting Variants
SamplesSSM023
Known GenesCNTNAP2, MIR548T
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)essv6943870
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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