A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5847866



Internal ID8967444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7337829..7340247hg38UCSC Ensembl
chr17:7241148..7243566hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382419
hg192419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2671173
Supporting Variants
SamplesHG00537
Known GenesACAP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5847866
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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