A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15588506



Internal ID6175342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3308376..3311221hg38UCSC Ensembl
Innerchr17:3308376..3311221hg38UCSC Ensembl
Outerchr17:3308091..3311502hg38UCSC Ensembl
chr17:3211670..3214515hg19UCSC Ensembl
Innerchr17:3211670..3214515hg19UCSC Ensembl
Outerchr17:3211385..3214796hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg382846
hg192846
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639742
Supporting Variants
SamplesNA19713
Known GenesOR3A4P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15588506
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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