A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15652907



Internal ID4491234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:27013481..27031666hg38UCSC Ensembl
Innerchr17:27013481..27031666hg38UCSC Ensembl
Outerchr17:27012981..27032166hg38UCSC Ensembl
chr17:25340507..25358692hg19UCSC Ensembl
Innerchr17:25340507..25358692hg19UCSC Ensembl
Outerchr17:25340007..25359192hg19UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3818186
hg1918186
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640278
Supporting Variants
SamplesHG03991
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15652907
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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