A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15610234



Internal ID714050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9300046..9303144hg38UCSC Ensembl
Innerchr17:9300546..9302644hg38UCSC Ensembl
Outerchr17:9299046..9304144hg38UCSC Ensembl
chr17:9203363..9206461hg19UCSC Ensembl
Innerchr17:9203863..9205961hg19UCSC Ensembl
Outerchr17:9202363..9207461hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg383099
hg193099
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639898
Supporting Variants
SamplesHG00335
Known GenesSTX8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15610234
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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