A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15967983



Internal ID5969799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1012555..1069137hg38UCSC Ensembl
chr19:1012554..1069136hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3856583
hg1956583
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643383
Supporting Variants
SamplesHG00867
Known GenesABCA7, CNN2, HMHA1, TMEM259
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15967983
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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