A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640930



Internal ID6681015
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15716072
SamplesHG01873
Known GenesPPM1D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640930
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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