A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15520444



Internal ID1910928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75068786..75083770hg38UCSC Ensembl
chr16:75102684..75117668hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3814985
hg1914985
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639082
Supporting Variants
SamplesHG01791
Known GenesZNRF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15520444
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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