A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15606858



Internal ID5608674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8357665..8358583hg38UCSC Ensembl
Innerchr17:8357715..8358533hg38UCSC Ensembl
Outerchr17:8357589..8358659hg38UCSC Ensembl
chr17:8260983..8261901hg19UCSC Ensembl
Innerchr17:8261033..8261851hg19UCSC Ensembl
Outerchr17:8260907..8261977hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38919
hg19919
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639885
Supporting Variants
SamplesHG02757
Known GenesLOC100128288
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15606858
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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