A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6462075



Internal ID9439478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31503220..31504473hg38UCSC Ensembl
chr17:29830238..29831491hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381254
hg191254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2678438
Supporting Variants
SamplesNA19377
Known GenesRAB11FIP4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6462075
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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