A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660929



Internal ID9927034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:44498845..44499008hg38UCSC Ensembl
chr5:44498947..44499110hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6449118, essv6435306, essv6454896, essv6278015, essv6367440, essv6043535, essv6052756
SamplesNA18592, HG00464, NA18948, HG00463, NA18543, NA18564, NA18624
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660929
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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