A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640537



Internal ID6680624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39059290..39066885hg38UCSC Ensembl
Innerchr17:39059335..39066841hg38UCSC Ensembl
Outerchr17:39059246..39066930hg38UCSC Ensembl
chr17:37215543..37223138hg19UCSC Ensembl
Innerchr17:37215588..37223094hg19UCSC Ensembl
Outerchr17:37215499..37223183hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg387596
hg197596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15674296
SamplesHG01672
Known GenesLOC100131347, PLXDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640537
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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