A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640364



Internal ID6680451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31416470..31417787hg38UCSC Ensembl
Innerchr17:31416470..31417787hg38UCSC Ensembl
Outerchr17:31416284..31417974hg38UCSC Ensembl
chr17:29743488..29744805hg19UCSC Ensembl
Innerchr17:29743488..29744805hg19UCSC Ensembl
Outerchr17:29743302..29744992hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381318
hg191318
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15657986, essv15657985
SamplesHG01873, HG01812
Known GenesRAB11FIP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640364
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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