A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5764788



Internal ID9876423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147657972..147658286hg38UCSC Ensembl
chr7:147355064..147355378hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2658548
Supporting Variants
SamplesNA20586
Known GenesCNTNAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5764788
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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