A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5844508



Internal ID9458693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37157829..37159366hg38UCSC Ensembl
Outerchr17:37157672..37159519hg38UCSC Ensembl
Innerchr17:35514743..35516280hg19UCSC Ensembl
Outerchr17:35514586..35516433hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381848
hg191848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2661121
Supporting Variants
SamplesNA18909
Known GenesACACA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5844508
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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