A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640538



Internal ID6680625
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15674298, essv15674297, essv15674299
SamplesHG02060, NA18632, HG02061
Known GenesPLXDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640538
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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