A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16031465



Internal ID2443924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:28613044..28726937hg38UCSC Ensembl
Innerchr19:28613044..28726937hg38UCSC Ensembl
Outerchr19:28612544..28727437hg38UCSC Ensembl
chr19:29103951..29217844hg19UCSC Ensembl
Innerchr19:29103951..29217844hg19UCSC Ensembl
Outerchr19:29103451..29218344hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38113894
hg19113894
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644107
Supporting Variants
SamplesHG02152
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16031465
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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