A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600886



Internal ID6987925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68810904..68847155hg38UCSC Ensembl
chr4:69676622..69712873hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3836252
hg1936252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11487001, essv11486998, essv11487031, essv11486999, essv11487021, essv11487005, essv11487019, essv11487011, essv11487032, essv11487009, essv11487020, essv11487016, essv11487018, essv11487028, essv11487017, essv11487026, essv11487002, essv11487023, essv11487003, essv11487006, essv11487015, essv11487027, essv11487004, essv11487007, essv11487033, essv11487014, essv11487024, essv11487008, essv11487030, essv11487022, essv11487029, essv11487025, essv11487012, essv11487000, essv11487013, essv11487010
SamplesHG01412, HG02628, NA18861, HG01885, HG01052, NA19350, NA19446, HG03074, HG02811, HG03499, NA20320, HG02541, NA20317, HG02549, HG02545, HG02716, HG02009, HG02943, HG01088, HG02450, NA18910, HG03024, NA20282, HG02585, HG02330, HG02557, HG03461, HG02799, NA19473, HG02983, HG03473, NA19360, NA19475, HG03112, HG02947, HG01695
Known GenesUGT2B10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600886
Frequency
Sample Size2504
Observed Gain36
Observed Loss0
Observed Complex0
Frequencyn/a


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