A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5912496



Internal ID9654252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:40048595..40049102hg38UCSC Ensembl
chr7:40088194..40088701hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38508
hg19508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669384
Supporting Variants
SamplesNA19384
Known GenesCDK13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5912496
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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