A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15582628



Internal ID1959082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1990195..1993080hg38UCSC Ensembl
Innerchr17:1990249..1993026hg38UCSC Ensembl
Outerchr17:1990141..1993134hg38UCSC Ensembl
chr17:1893489..1896374hg19UCSC Ensembl
Innerchr17:1893543..1896320hg19UCSC Ensembl
Outerchr17:1893435..1896428hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg382886
hg192886
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639702
Supporting Variants
SamplesHG01812
Known GenesRTN4RL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15582628
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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