A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15595184



Internal ID4327830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5016458..5017500hg38UCSC Ensembl
Innerchr17:5016508..5017450hg38UCSC Ensembl
Outerchr17:5016408..5017550hg38UCSC Ensembl
chr17:4919753..4920795hg19UCSC Ensembl
Innerchr17:4919803..4920745hg19UCSC Ensembl
Outerchr17:4919703..4920845hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381043
hg191043
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639800
Supporting Variants
SamplesHG03872
Known GenesKIF1C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15595184
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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