A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15674487



Internal ID2163824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40512885..40522061hg38UCSC Ensembl
Innerchr17:40512885..40522061hg38UCSC Ensembl
Outerchr17:40512385..40522561hg38UCSC Ensembl
chr17:38669137..38678313hg19UCSC Ensembl
Innerchr17:38669137..38678313hg19UCSC Ensembl
Outerchr17:38668637..38678813hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg389177
hg199177
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640555
Supporting Variants
SamplesHG01954
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15674487
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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