A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15679200



Internal ID5681016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43181864..43183554hg38UCSC Ensembl
Innerchr17:43181864..43183554hg38UCSC Ensembl
Outerchr17:43181594..43183821hg38UCSC Ensembl
chr17:41333881..41335571hg19UCSC Ensembl
Innerchr17:41333881..41335571hg19UCSC Ensembl
Outerchr17:41333611..41335838hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381691
hg191691
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640621
Supporting Variants
SamplesNA18865
Known GenesNBR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15679200
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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