A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15680780



Internal ID5682596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44732991..44741121hg38UCSC Ensembl
Innerchr17:44733141..44740971hg38UCSC Ensembl
Outerchr17:44732841..44741271hg38UCSC Ensembl
chr17:42810359..42818489hg19UCSC Ensembl
Innerchr17:42810509..42818339hg19UCSC Ensembl
Outerchr17:42810209..42818639hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg388131
hg198131
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640654
Supporting Variants
SamplesHG00707
Known GenesDBF4B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15680780
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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