A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640664



Internal ID6680750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45418839..45419960hg38UCSC Ensembl
Innerchr17:45418839..45419960hg38UCSC Ensembl
Outerchr17:45418653..45420161hg38UCSC Ensembl
chr17:43496205..43497326hg19UCSC Ensembl
Innerchr17:43496205..43497326hg19UCSC Ensembl
Outerchr17:43496019..43497527hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381122
hg191122
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15680911
SamplesNA12749
Known GenesARHGAP27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640664
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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