A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15674361



Internal ID5676177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39904025..39906883hg38UCSC Ensembl
Innerchr17:39904043..39906866hg38UCSC Ensembl
Outerchr17:39904008..39906901hg38UCSC Ensembl
chr17:38060278..38063136hg19UCSC Ensembl
Innerchr17:38060296..38063119hg19UCSC Ensembl
Outerchr17:38060261..38063154hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg382859
hg192859
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640549
Supporting Variants
SamplesHG02291
Known GenesGSDMB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15674361
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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