A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15656947



Internal ID5658763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28854410..28866359hg38UCSC Ensembl
Innerchr17:28854410..28866359hg38UCSC Ensembl
Outerchr17:28853910..28866859hg38UCSC Ensembl
chr17:27181428..27193377hg19UCSC Ensembl
Innerchr17:27181428..27193377hg19UCSC Ensembl
Outerchr17:27180928..27193877hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3811950
hg1911950
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640315
Supporting Variants
SamplesHG04173
Known GenesERAL1, MIR144, MIR451A, MIR451B, MIR4732
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15656947
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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