A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5813376



Internal ID9609939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146527485..146527890hg38UCSC Ensembl
chr7:146224577..146224982hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38406
hg19406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2670530
Supporting Variants
SamplesNA19311
Known GenesCNTNAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5813376
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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