A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15995483



Internal ID5997299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12741573..12743294hg38UCSC Ensembl
Innerchr19:12741611..12743257hg38UCSC Ensembl
Outerchr19:12741536..12743332hg38UCSC Ensembl
chr19:12852387..12854108hg19UCSC Ensembl
Innerchr19:12852425..12854071hg19UCSC Ensembl
Outerchr19:12852350..12854146hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381722
hg191722
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643712
Supporting Variants
SamplesNA19102
Known GenesASNA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15995483
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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