A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597569



Internal ID6984708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119936320..119938012hg38UCSC Ensembl
Innerchr3:119936321..119938012hg38UCSC Ensembl
Outerchr3:119936320..119938013hg38UCSC Ensembl
chr3:119655167..119656859hg19UCSC Ensembl
Innerchr3:119655168..119656859hg19UCSC Ensembl
Outerchr3:119655167..119656860hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg381693
hg191693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11117991, essv11117988, essv11117973, essv11117987, essv11117992, essv11117998, essv11117999, essv11117977, essv11117971, essv11117994, essv11117986, essv11117974, essv11117980, essv11117995, essv11117990, essv11117972, essv11117983, essv11117996, essv11117979, essv11117989, essv11117978, essv11117975, essv11117997, essv11117984, essv11117993, essv11117970, essv11117969, essv11117976, essv11118000, essv11118001, essv11117981, essv11117982, essv11117985
SamplesHG03548, HG03052, HG03111, HG03517, HG02804, HG02895, NA18489, HG02541, HG02489, HG03209, HG02561, NA19238, HG02623, HG03394, NA19908, NA19462, NA18516, HG02144, HG03124, HG03563, HG02817, HG03388, HG03571, HG03391, HG03567, NA19256, HG02308, HG03097, HG02938, HG03063, NA19185, NA19116, HG03376
Known GenesGSK3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597569
Frequency
Sample Size2504
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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