A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15655839



Internal ID5657655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28318659..28321776hg38UCSC Ensembl
Innerchr17:28318659..28321776hg38UCSC Ensembl
Outerchr17:28318390..28321916hg38UCSC Ensembl
chr17:26645685..26648802hg19UCSC Ensembl
Innerchr17:26645685..26648802hg19UCSC Ensembl
Outerchr17:26645416..26648942hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg383118
hg193118
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640308
Supporting Variants
SamplesHG01271
Known GenesTMEM97
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15655839
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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