A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16083586



Internal ID2861461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:52569479..52657072hg38UCSC Ensembl
Innerchr19:52569480..52657071hg38UCSC Ensembl
Outerchr19:52569478..52657073hg38UCSC Ensembl
chr19:53072732..53160325hg19UCSC Ensembl
Innerchr19:53072733..53160324hg19UCSC Ensembl
Outerchr19:53072731..53160326hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3887594
hg1987594
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644699
Supporting Variants
SamplesHG02537
Known GenesZNF137P, ZNF701, ZNF83
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16083586
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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