A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16054548



Internal ID1333479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:39197621..39199568hg38UCSC Ensembl
Innerchr19:39197667..39199523hg38UCSC Ensembl
Outerchr19:39197576..39199614hg38UCSC Ensembl
chr19:39688261..39690208hg19UCSC Ensembl
Innerchr19:39688307..39690163hg19UCSC Ensembl
Outerchr19:39688216..39690254hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381948
hg191948
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644325
Supporting Variants
SamplesHG01174
Known GenesNCCRP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16054548
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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