A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663251



Internal ID9929356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146571783..146572902hg38UCSC Ensembl
chr7:146268875..146269994hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381120
hg191120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6003661, essv5641631, essv5900325
SamplesNA18959, NA19062, NA18964
Known GenesCNTNAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663251
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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