A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15716072



Internal ID5717888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60607495..60609339hg38UCSC Ensembl
Innerchr17:60607505..60609330hg38UCSC Ensembl
Outerchr17:60607486..60609349hg38UCSC Ensembl
chr17:58684856..58686700hg19UCSC Ensembl
Innerchr17:58684866..58686691hg19UCSC Ensembl
Outerchr17:58684847..58686710hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381845
hg191845
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640930
Supporting Variants
SamplesHG01873
Known GenesPPM1D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15716072
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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