A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667392



Internal ID9933497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37380963..37381855hg38UCSC Ensembl
Outerchr17:37380806..37382008hg38UCSC Ensembl
Innerchr17:35737901..35738793hg19UCSC Ensembl
Outerchr17:35737744..35738946hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381203
hg191203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6050348, essv6326388, essv6253019, essv6492665, essv6571251, essv6180658, essv5829904
SamplesNA12414, NA18519, NA18934, NA19114, NA19428, NA20281, NA19102
Known GenesACACA, C17orf78
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667392
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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