A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596077



Internal ID6983395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47192046..47215375hg38UCSC Ensembl
chr3:47233536..47256865hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3823330
hg1923330
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11001008, essv11000999, essv11000992, essv11001028, essv11001006, essv11000994, essv11000990, essv11001000, essv11001022, essv11000993, essv11000995, essv11001015, essv11001027, essv11001001, essv11001005, essv11001026, essv11001004, essv11001009, essv11001017, essv11001020, essv11001018, essv11001025, essv11000996, essv11000991, essv11001003, essv11001024, essv11001013, essv11001002, essv11001012, essv11001014, essv11001016, essv11001019, essv11001007, essv11001023, essv11001011, essv11000997, essv11001010, essv11001021, essv11000998
SamplesNA12383, NA12717, HG01098, HG01303, HG01773, HG01359, NA20783, HG04060, HG01326, NA20531, NA20805, NA20808, HG01070, NA20822, HG01170, HG01757, HG01072, HG01198, HG01133, NA20533, NA20515, HG01353, HG00154, HG03787, NA20536, HG00132, NA12234, HG01182, HG01685, HG00638, NA20790, HG01086, NA20582, NA20807, NA20826, NA19780, HG00252, HG01695, HG01507
Known GenesKIF9-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596077
Frequency
Sample Size2504
Observed Gain39
Observed Loss0
Observed Complex0
Frequencyn/a


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