A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6260817



Internal ID8785463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146602875..146605550hg38UCSC Ensembl
chr7:146299967..146302642hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg382676
hg192676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677971
Supporting Variants
SamplesHG00188
Known GenesCNTNAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6260817
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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