A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6757646



Internal ID10165771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148375780..148379157hg38UCSC Ensembl
Outerchr7:148072872..148076249hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383378
hg193378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735322
Supporting Variants
SamplesSSM059
Known GenesCNTNAP2
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)essv6757646
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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