A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735313



Internal ID9969643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:147657975..147658283hg38UCSC Ensembl
Outerchr7:147355067..147355375hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6893890, essv6907981
SamplesSSM014, SSM098
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)esv2735313
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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