A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674471



Internal ID9940576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113941870..113942165hg38UCSC Ensembl
chr3:113660717..113661012hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5697531, essv6307914, essv6357158, essv6016117, essv5482373, essv5508416, essv5677399
SamplesNA19704, NA20346, HG01136, NA18910, NA18523, NA18858, NA19390
Known GenesGRAMD1C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674471
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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