A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15656967



Internal ID6320151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29137855..29143859hg38UCSC Ensembl
Innerchr17:29137859..29143855hg38UCSC Ensembl
Outerchr17:29137851..29143863hg38UCSC Ensembl
chr17:27464873..27470877hg19UCSC Ensembl
Innerchr17:27464877..27470873hg19UCSC Ensembl
Outerchr17:27464869..27470881hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg386005
hg196005
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640320
Supporting Variants
SamplesNA19917
Known GenesMYO18A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15656967
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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