A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16048767



Internal ID4364222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:36251138..36256673hg38UCSC Ensembl
Innerchr19:36251155..36256657hg38UCSC Ensembl
Outerchr19:36251122..36256690hg38UCSC Ensembl
chr19:36742040..36747575hg19UCSC Ensembl
Innerchr19:36742057..36747559hg19UCSC Ensembl
Outerchr19:36742024..36747592hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg385536
hg195536
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644251
Supporting Variants
SamplesHG03897
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16048767
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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