A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6031656



Internal ID9009059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40267331..40267640hg38UCSC Ensembl
chr1:40733003..40733312hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2658928
Supporting Variants
SamplesHG00142
Known GenesZMPSTE24
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6031656
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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