A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15674299



Internal ID5676115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39131422..39133865hg38UCSC Ensembl
Innerchr17:39131422..39133865hg38UCSC Ensembl
Outerchr17:39131126..39134119hg38UCSC Ensembl
chr17:37287675..37290118hg19UCSC Ensembl
Innerchr17:37287675..37290118hg19UCSC Ensembl
Outerchr17:37287379..37290372hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg382444
hg192444
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640538
Supporting Variants
SamplesNA18632
Known GenesPLXDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15674299
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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