A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735312



Internal ID9969642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:147575156..147575282hg38UCSC Ensembl
Outerchr7:147272248..147272374hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957637, essv6964335
SamplesSSM027, SSM026
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)esv2735312
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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