A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15657985



Internal ID5659801
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640364
Supporting Variants
SamplesHG01812
Known GenesRAB11FIP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15657985
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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