A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421508



Internal ID7905270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146436775..146442816hg38UCSC Ensembl
Innerchr7:146133867..146139908hg19UCSC Ensembl
Innerchr7:145764800..145770841hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg386042
hg196042
hg186042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5144015, essv5024448, essv5016862, essv5068418, essv5157666, essv5107867, essv5136120, essv5079496, essv5138679, essv5069755, essv5011590, essv5122475, essv5025916, essv5097948, essv5021051, essv5090541, essv5155460, essv5134938, essv5024078, essv5125119, essv5149240, essv5144312, essv5036460, essv5048707, essv5060344
SamplesNA19137, NA19714, NA18914, NA18933, NA19114, NA19093, NA20343, NA19191, NA19223, NA18516, NA18517, NA20342, NA18489, NA18507, NA19428, NA19182, NA21352, NA18916, NA19324, NA19172, NA19139, NA19382, NA18857, NA18499, NA19456
Known GenesCNTNAP2
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)esv2421508
Frequency
Sample Size1184
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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