A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5487230



Internal ID9304367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57050970..57051674hg38UCSC Ensembl
chr6:56915768..56916472hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38705
hg19705
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2669750
Supporting Variants
SamplesNA18487
Known GenesKIAA1586
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5487230
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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