A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15650459



Internal ID3438761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20811960..20889667hg38UCSC Ensembl
Innerchr17:20811960..20889667hg38UCSC Ensembl
Outerchr17:20811460..20890167hg38UCSC Ensembl
chr17:20715273..20792980hg19UCSC Ensembl
Innerchr17:20715273..20792980hg19UCSC Ensembl
Outerchr17:20714773..20793480hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3877708
hg1977708
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640216
Supporting Variants
SamplesHG03072
Known GenesCCDC144NL, LOC440416
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15650459
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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