A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735299



Internal ID9969629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:146602843..146605548hg38UCSC Ensembl
Outerchr7:146299935..146302640hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg382706
hg192706
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6897045, essv6841607, essv6786804, essv6799268, essv6771184, essv6790908, essv6893889, essv6667043, essv6802858, essv6826803, essv6891099
SamplesSSM065, SSM084, SSM099, SSM072, SSM001, SSM012, SSM073, SSM069, SSM098, SSM070, SSM080
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)esv2735299
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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