A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12744608



Internal ID3946900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:38691039..38763138hg38UCSC Ensembl
chr7:38730639..38802738hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3872100
hg1972100
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612889
Supporting Variants
SamplesHG03598
Known GenesVPS41
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12744608
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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