A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639732



Internal ID6679822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2942802..2944924hg38UCSC Ensembl
Innerchr17:2942809..2944918hg38UCSC Ensembl
Outerchr17:2942796..2944931hg38UCSC Ensembl
chr17:2846096..2848218hg19UCSC Ensembl
Innerchr17:2846103..2848212hg19UCSC Ensembl
Outerchr17:2846090..2848225hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg382123
hg192123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15585983, essv15585982
SamplesHG02600, HG03782
Known GenesRAP1GAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639732
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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