A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15968112



Internal ID5969928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1356856..1396468hg38UCSC Ensembl
chr19:1356855..1396467hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3839613
hg1939613
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643395
Supporting Variants
SamplesHG00266
Known GenesMUM1, NDUFS7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15968112
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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