A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660248



Internal ID9579667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:58247305..58248318hg38UCSC Ensembl
Outerchr3:58247268..58248368hg38UCSC Ensembl
Innerchr3:58233032..58234045hg19UCSC Ensembl
Outerchr3:58232995..58234095hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6349292
SamplesNA19360
Known GenesABHD6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660248
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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