A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15516732



Internal ID1047614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:74297797..74322465hg38UCSC Ensembl
chr16:74331695..74356363hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3824669
hg1924669
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639059
Supporting Variants
SamplesHG00671
Known GenesPSMD7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15516732
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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