A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16005700



Internal ID6007516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19321640..19322606hg38UCSC Ensembl
Innerchr19:19321659..19322587hg38UCSC Ensembl
Outerchr19:19321621..19322625hg38UCSC Ensembl
chr19:19432449..19433415hg19UCSC Ensembl
Innerchr19:19432468..19433396hg19UCSC Ensembl
Outerchr19:19432430..19433434hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38967
hg19967
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643849
Supporting Variants
SamplesHG00593
Known GenesMAU2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16005700
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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