A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675173



Internal ID9594592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100605300..100610714hg38UCSC Ensembl
Outerchr3:100605143..100610867hg38UCSC Ensembl
Innerchr3:100324144..100329558hg19UCSC Ensembl
Outerchr3:100323987..100329711hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg385725
hg195725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5508003
SamplesNA18552
Known GenesGPR128
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675173
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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