A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15991070



Internal ID5992886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11894255..11919171hg38UCSC Ensembl
Innerchr19:11894755..11918671hg38UCSC Ensembl
Outerchr19:11893255..11920171hg38UCSC Ensembl
chr19:12005070..12029986hg19UCSC Ensembl
Innerchr19:12005570..12029486hg19UCSC Ensembl
Outerchr19:12004070..12030986hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3824917
hg1924917
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643680
Supporting Variants
SamplesNA20785
Known GenesZNF69
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15991070
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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