A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640320



Internal ID7027095
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15656966, essv15656967
SamplesNA19917, HG02380
Known GenesMYO18A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640320
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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