A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15647902



Internal ID2027602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19493955..19496527hg38UCSC Ensembl
Innerchr17:19493997..19496485hg38UCSC Ensembl
Outerchr17:19493913..19496569hg38UCSC Ensembl
chr17:19397268..19399840hg19UCSC Ensembl
Innerchr17:19397310..19399798hg19UCSC Ensembl
Outerchr17:19397226..19399882hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382573
hg192573
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640172
Supporting Variants
SamplesHG01863
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15647902
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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