A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672544



Internal ID9591963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151793742..151833274hg38UCSC Ensembl
chr3:151511530..151551062hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3839533
hg1939533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6137848, essv6063208, essv6480717, essv6540492, essv6396907, essv5574813, essv5678114, essv5834774, essv6364486
SamplesHG00310, HG00319, NA20783, NA12273, HG01191, HG00268, HG01137, NA19655, NA11829
Known GenesAADAC, MIR548H2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672544
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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