A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15580867



Internal ID942772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1350707..1351529hg38UCSC Ensembl
Innerchr17:1350708..1351529hg38UCSC Ensembl
Outerchr17:1350707..1351530hg38UCSC Ensembl
chr17:1254001..1254823hg19UCSC Ensembl
Innerchr17:1254002..1254823hg19UCSC Ensembl
Outerchr17:1254001..1254824hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38823
hg19823
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639681
Supporting Variants
SamplesHG00566
Known GenesYWHAE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15580867
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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