A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640385



Internal ID6680472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32527514..32559901hg38UCSC Ensembl
Innerchr17:32528014..32559401hg38UCSC Ensembl
Outerchr17:32526514..32560901hg38UCSC Ensembl
chr17:30854532..30886919hg19UCSC Ensembl
Innerchr17:30855032..30886419hg19UCSC Ensembl
Outerchr17:30853532..30887919hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3832388
hg1932388
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15659300
SamplesNA19011
Known GenesMYO1D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640385
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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