A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15575933



Internal ID509787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:841901..849414hg38UCSC Ensembl
Innerchr17:841942..849373hg38UCSC Ensembl
Outerchr17:841860..849455hg38UCSC Ensembl
chr17:745141..752654hg19UCSC Ensembl
Innerchr17:745182..752613hg19UCSC Ensembl
Outerchr17:745100..752695hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg387514
hg197514
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639648
Supporting Variants
SamplesHG00182
Known GenesNXN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15575933
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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