A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735303



Internal ID10318939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:147084130..147084435hg38UCSC Ensembl
Outerchr7:146781222..146781527hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6975456, essv6870091
SamplesSSM090, SSM029
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)esv2735303
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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