A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15664509



Internal ID2168760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35250248..35255692hg38UCSC Ensembl
Innerchr17:35250248..35255692hg38UCSC Ensembl
Outerchr17:35249748..35256192hg38UCSC Ensembl
chr17:33577267..33582711hg19UCSC Ensembl
Innerchr17:33577267..33582711hg19UCSC Ensembl
Outerchr17:33576767..33583211hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg385445
hg195445
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640444
Supporting Variants
SamplesHG01958
Known GenesSLFN5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15664509
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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