A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15990318



Internal ID5992134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10101662..10103956hg38UCSC Ensembl
Innerchr19:10101662..10103956hg38UCSC Ensembl
Outerchr19:10101310..10104244hg38UCSC Ensembl
chr19:10212338..10214632hg19UCSC Ensembl
Innerchr19:10212338..10214632hg19UCSC Ensembl
Outerchr19:10211986..10214920hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382295
hg192295
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643648
Supporting Variants
SamplesHG02470
Known GenesANGPTL6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15990318
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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