A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657233



Internal ID9923338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195412946..195423700hg38UCSC Ensembl
chr3:195133675..195144429hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3810755
hg1910755
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5868513, essv5916064, essv6010611
SamplesNA18565, NA18567, HG00629
Known GenesACAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657233
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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