A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6866066



Internal ID10262940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:147186920..147187059hg38UCSC Ensembl
Outerchr7:146884012..146884151hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735304, esv2735305
Supporting Variants
SamplesSSM089
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)essv6866066
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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