A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665137



Internal ID9931242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:44289976..44367269hg38UCSC Ensembl
chr4:44291993..44369286hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3877294
hg1977294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6559378, essv6267389
SamplesHG00501, HG00512
Known GenesKCTD8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665137
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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