A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6799270



Internal ID10204117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148375785..148379287hg38UCSC Ensembl
Outerchr7:148072877..148076379hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383503
hg193503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735322
Supporting Variants
SamplesSSM072
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)essv6799270
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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