A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644662



Internal ID6684728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50996542..51001686hg38UCSC Ensembl
Innerchr19:50996555..51001674hg38UCSC Ensembl
Outerchr19:50996530..51001699hg38UCSC Ensembl
chr19:51499798..51504942hg19UCSC Ensembl
Innerchr19:51499811..51504930hg19UCSC Ensembl
Outerchr19:51499786..51504955hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg385145
hg195145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16079896, essv16079897
SamplesNA20340, HG02586
Known GenesKLK8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644662
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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