A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640715



Internal ID6680801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48402232..48404211hg38UCSC Ensembl
Innerchr17:48402251..48404193hg38UCSC Ensembl
Outerchr17:48402214..48404230hg38UCSC Ensembl
chr17:46479594..46481573hg19UCSC Ensembl
Innerchr17:46479613..46481555hg19UCSC Ensembl
Outerchr17:46479576..46481592hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg381980
hg191980
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15688210
SamplesHG02215
Known GenesSKAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640715
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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