A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1247e199



Internal ID18983301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148394277..148397156hg38UCSC Ensembl
chr7:148091369..148094248hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg382880
hg192880
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2657349, esv2678338
SamplesNA18632, HG00436
Known GenesCNTNAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1247e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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