A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6907981



Internal ID10019355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:147657980..147658249hg38UCSC Ensembl
Outerchr7:147355072..147355341hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735313
Supporting Variants
SamplesSSM014
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)essv6907981
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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